Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.S144*

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.S144*
c.431C>A
Surrounding Variants
1 paper
NM_013314.4
p.S144*
c.431C>G
1 paper
NM_013314.4
p.S144A
c.430T>G
2 papers
NM_013314.4
p.E145fs
c.433_434fs
1 paper
NM_013314.4
p.P143S
c.427C>T
1 paper
NM_013314.4
p.W142*
c.425G>A
1 paper
NM_013314.4
p.E145_K146delFs
c.435_436delTC
1 paper
NM_013314.4
p.K146_A147Fs
c.438_439delinsTFs
1 paper
NM_013314.4
p.S151A
c.451T>G
2 papers
NM_013314.4
p.P137A
c.409C>G
2 papers
NM_013314.4
p.T152fs
c.454_455fs
1 paper
NM_013314.4
p.T152A
c.454A>G
1 paper
NM_013314.4
p.S151insFs
c.452_453dupCC
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