Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.Q103R

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
2 papers
NM_013314.4
p.Q103R
c.308A>G
Surrounding Variants
1 paper
NM_013314.4
p.T105S
c.314C>G
1 paper
NM_013314.4
p.V101L
c.301G>T
1 paper
NM_013314.4
p.V101L
c.301G>C
1 paper
NM_013314.4
p.V108_H109insG
c.322_326ins3
1 paper
NM_013314.4
p.P110A
c.328C>G
1 paper
NM_013314.4
p.Y96F
c.287A>T
1 paper
NM_013314.4
p.P113S
c.337C>T
1 paper
NM_013314.4
p.A92T
c.274G>A
1 paper
NM_013314.4
p.A115P
c.343G>C
1 paper
NM_013314.4
p.A88T
c.262G>A
1 paper
NM_013314.4
p.P87S
c.259C>T
1 paper
NM_013314.4
p.I120T
c.359T>C
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