Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.P57P

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
3 papers
NM_013314.4
p.P57P
c.171T>C
Surrounding Variants
1 paper
NM_013314.4
p.P57fs
c.169_170fs
1 paper
NM_013314.4
p.A58D
c.173C>A
2 papers
NM_013314.4
p.E60K
c.178G>A
1 paper
NM_013314.4
p.E55Q
c.163G>C
1 paper
NM_013314.4
p.E61E
c.183G>A
1 paper
NM_013314.4
p.W64*
c.192G>A
1 paper
NM_013314.4
p.S65S
c.195C>T
1 paper
NM_013314.4
p.F68_D69insFs
c.204_205insA
1 paper
NM_013314.4
p.F68_D69Splc
c.204+197C>A
1 paper
NM_013314.4
p.E55Splc
c.164-2069G>A
1 paper
NM_013314.4
p.F68_D69Splc
c.205-1G>C
1 paper
NM_013314.4
p.D69N
c.205G>A
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