Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.R16Splc

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
4 papers
NM_013314.4
p.R16Splc
c.47+3A>T
Surrounding Variants
1 paper
NM_013314.4
p.R16Splc
c.47+1G>A
1 paper
NM_013314.4
p.K14R
c.41A>G
1 paper
NM_013314.4
p.R16Splc
c.47+18C>G
1 paper
NM_013314.4
p.A11S
c.31G>T
1 paper
NM_013314.4
p.V9L
c.25G>C
1 paper
NM_013314.4
p.K6_I7delFs
c.18_19delTT
1 paper
NM_013314.4
p.I7L
c.19A>T
1 paper
NM_013314.4
p.K3fs
c.7_8fs
1 paper
NM_013314.4
p.M1I
c.3G>T
1 paper
NM_013314.4
p.M1I
c.3G>C
1 paper
NM_013314.4
p.M1I
c.3G>A
1 paper
NM_013314.4
p.M1T
c.2T>C
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