Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.G82_R83delFs

SH2B3

633 papers

RefSeq Summary

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative ...

Pfam Domains

Phe_ZIPaa 25–80UCSCPhenylalanine zipper
SH2aa 364–441UCSCSH2 domain

Gene Aliases

HGNC Name

SH2B adaptor protein 3

HGNC Alias Symbols

LNK; IDDM20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005475.3
p.G82_R83delFs
c.246_249del4
Surrounding Variants
2 papers
NM_005475.3
p.D81G
c.242A>G
6 papers
NM_005475.3
p.R80C
c.238C>T
1 paper
NM_005475.3
p.G82insFs
c.245dupG
1 paper
NM_005475.3
p.G82R
c.244G>A
1 paper
NM_005475.3
p.G82R
c.244G>C
1 paper
NM_005475.3
p.R83W
c.247C>T
1 paper
NM_005475.3
p.A84_G86delFs
c.250_257del8
15 papers
NM_005475.3
p.E78K
c.232G>A
1 paper
NM_005475.3
p.E78*
c.232G>T
1 paper
NM_005475.3
p.R77R
c.231C>A
1 paper
NM_005475.3
p.R77H
c.230G>A
1 paper
NM_005475.3
p.A84fs
c.250_251fs
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