Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.H128L

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.H128L
c.383A>T
Surrounding Variants
1 paper
NM_013314.4
p.S129A
c.385T>G
1 paper
NM_013314.4
p.S129F
c.386C>T
1 paper
NM_013314.4
p.P131T
c.391C>A
1 paper
NM_013314.4
p.R123*
c.367C>T
1 paper
NM_013314.4
p.D121D
c.363C>T
1 paper
NM_013314.4
p.D121Splc
c.362-2A>G
2 papers
NM_013314.4
p.P137A
c.409C>G
1 paper
NM_013314.4
p.W142*
c.425G>A
1 paper
NM_013314.4
p.P143S
c.427C>T
1 paper
NM_013314.4
p.S144A
c.430T>G
1 paper
NM_013314.4
p.S144*
c.431C>G
1 paper
NM_013314.4
p.S144*
c.431C>A
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