Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.R16Splc

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.R16Splc
c.48-2203C>G
Surrounding Variants
1 paper
NM_013314.4
p.L18_Q19del2
c.52_56del6
7 papers
NM_013314.4
p.G30R
c.88G>C
1 paper
NM_013314.4
p.I36_K37insFs
c.108_109insG
2 papers
NM_013314.4
p.K37R
c.110A>G
1 paper
NM_013314.4
p.K38R
c.113A>G
1 paper
NM_013314.4
p.K40R
c.119A>G
1 paper
NM_013314.4
p.V41L
c.121G>C
1 paper
NM_013314.4
p.V41A
c.122T>C
1 paper
NM_013314.4
p.K42R
c.125A>G
1 paper
NM_013314.4
p.A43P
c.127G>C
1 paper
NM_013314.4
p.P44L
c.131C>T
1 paper
NM_013314.4
p.P44P
c.132T>A
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