- databases for immunodeficiency-causing variations
Main page
Descriptions
Bioinformatics
Publications
Variation browser
Recent Results
Submit variation
BLMbase
Variation registry for Bloom syndrome
Select database by name
ADAbase
AICDAbase
AIREbase
AK2base
AP3B1base
BIRC4base
BLMbase
BLNKbase
BTKbase
C1QAbase
C1QBbase
C1QCbase
C1Sbase
C2base
C3base
C5base
C6base
C7base
C8Bbase
C9base
CARD9base
CASP10base
CASP8base
CD19base
CD247base
CD3Dbase
CD3Ebase
CD3Gbase
CD40Lbase
CD40base
CD55base
CD59base
CD79Abase
CD79Bbase
CD8Abase
CEBPEbase
CFDbase
CFHbase
CFIbase
CFPbase
CIITAbase
CTSCbase
CXCR4base
CYBAbase
CYBBbase
DCLRE1Cbase
DKC1base
DNMT3Bbase
ELA2base
FASLGbase
FCGR1Abase
FCGR3Abase
FERMT3base
FOXN1base
FOXP3base
G6PC3base
GFI1base
HAX1base
ICOSbase
IFNGR1base
IFNGR2base
IGHG2base
IGHMbase
IGLL1base
IKBKGbase
IL12Bbase
IL12RB1base
IL2RAbase
IL7Rbase
IRAK4base
ITGB2base
JAK3base
LIG1base
LIG4base
LRRC8Abase
LYSTbase
MAPBPIPbase
MASP2base
MLPHbase
MPObase
MRE11Abase
MYO5Abase
NCF1base
NCF2base
NFKBIAbase
NHEJ1base
NPbase
NRASbase
ORAI1base
PRF1base
PRKDCbase
PTPRCbase
RAB27Abase
RAC2base
RAD50base
RAG1base
RAG2base
RASGRP2base
RFX5base
RFXANKbase
RFXAPbase
RNF168base
SBDSbase
SERPING1base
SH2D1Abase
SLC35C1base
SMARCAL1base
SP110base
SPINK5base
STAT1base
STAT2base
STAT3base
STAT5Bbase
STIM1base
STX11base
STXBP2base
TAP1base
TAP2base
TAPBPbase
TAZbase
TCN2base
TLR3base
TMC6base
TMC8base
TNFRSF13Bbase
TYK2base
UNC13Dbase
UNC93B1base
UNGbase
WASbase
ZAP70base
BLMbase mutation types
BLMbase mutation types
The number of analyzed patients
Missense
11
Nonsense
49
Deletion frameshift
18
Deletion undefined
4
Insertion frameshift
49
Splice site undefined
4
Unclassified
9
Total
144
The number of unrelated patients
Missense
11
Nonsense
49
Deletion frameshift
18
Deletion undefined
4
Insertion frameshift
49
Splice site undefined
4
Unclassified
8
Total
143
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024
