Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.S70S

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.S70S
c.210C>T
Surrounding Variants
1 paper
NM_013314.4
p.D69N
c.205G>A
1 paper
NM_013314.4
p.Y72F
c.215A>T
1 paper
NM_013314.4
p.F68_D69Splc
c.205-1G>C
2 papers
NM_013314.4
p.D76N
c.226G>A
1 paper
NM_013314.4
p.Y84F
c.251A>T
1 paper
NM_013314.4
p.V85M
c.253G>A
1 paper
NM_013314.4
p.P87S
c.259C>T
1 paper
NM_013314.4
p.A88T
c.262G>A
1 paper
NM_013314.4
p.A92T
c.274G>A
1 paper
NM_013314.4
p.Y96F
c.287A>T
1 paper
NM_013314.4
p.V101L
c.301G>T
1 paper
NM_013314.4
p.V101L
c.301G>C
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