Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.E175_A176Splc

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.E175_A176Splc
c.526-5G>C
Surrounding Variants
1 paper
NM_013314.4
p.E175_A176Splc
c.526-6T>G
1 paper
NM_013314.4
p.E175_A176Splc
c.526-7C>T
1 paper
NM_013314.4
p.V180I
c.538G>A
1 paper
NM_013314.4
p.D184Y
c.550G>T
1 paper
NM_013314.4
p.T193delFs
c.578delG
1 paper
NM_013314.4
p.P198T
c.592C>A
1 paper
NM_013314.4
p.P204A
c.610C>G
2 papers
NM_013314.4
p.M205I
c.615G>T
2 papers
NM_013314.4
p.M205I
c.615G>C
2 papers
NM_013314.4
p.M205I
c.615G>A
1 paper
NM_013314.4
p.P212A
c.634C>G
2 papers
NM_013314.4
p.G226Splc
c.676+1G>A
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