Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.K365_D366Splc

BLNK

199 papers

RefSeq Summary

This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling ...

Pfam Domains

SH2aa 346–429UCSCSH2 domain

Gene Aliases

HGNC Name

B cell linker

HGNC Alias Symbols

SLP65; Ly57; SLP-65; BLNK-s; BASH; bca

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013314.4
p.K365_D366Splc
c.1096-505C>T
Surrounding Variants
1 paper
NM_013314.4
p.D366N
c.1096G>A
1 paper
NM_013314.4
p.V387A
c.1160T>C
1 paper
NM_013314.4
p.R392*
c.1174C>T
1 paper
NM_013314.4
p.P397S
c.1189C>T
1 paper
NM_013314.4
p.P397L
c.1190C>T
1 paper
NM_013314.4
p.E402K
c.1204G>A
1 paper
NM_013314.4
p.G410S
c.1228G>A
1 paper
NM_013314.4
p.R411T
c.1232G>C
2 papers
NM_013314.4
p.E417_Y418Splc
c.1251+5G>C
1 paper
NM_013314.4
p.H361R
c.1082A>G
1 paper
NM_013314.4
p.D352insFs
c.1054dupG
1 paper
NM_013314.4
p.W346R
c.1036T>C
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