Varaico: Literature-Extracted Genetic Variants

Gene:BLNK
Variant:p.Q305E

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.Q305E
c.913C>G
Surrounding Variants
3 papers
NM_013314.4
p.I308T
c.923T>C
1 paper
NM_013314.4
p.P309H
c.926C>A
1 paper
NM_013314.4
p.Q288*
c.862C>T
3 papers
NM_013314.4
p.R282*
c.844C>T
1 paper
NM_013314.4
p.P277P
c.831T>C
1 paper
NM_013314.4
p.E273Splc
c.818-1G>C
1 paper
NM_013314.4
p.E273Splc
c.818-2A>C
1 paper
NM_013314.4
p.Q264*
c.790C>T
1 paper
NM_013314.4
p.N318delFs
c.953delT
1 paper
NM_013314.4
p.Q337_E338Splc
c.1011+2T>C
1 paper
NM_013314.4
p.Q337_E338Splc
c.1011+5G>A
1 paper
NM_013314.4
p.T258K
c.773C>A
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