Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.G505D

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
2 papers
NM_005475.3
p.G505D
c.1514G>A
Surrounding Variants
1 paper
NM_005475.3
p.G505A
c.1514G>C
1 paper
NM_005475.3
p.G505R
c.1513G>C
1 paper
NM_005475.3
p.G505insFs
c.1514dupG
1 paper
NM_005475.3
p.C506F
c.1517G>T
1 paper
NM_005475.3
p.C506_P507insFs
c.1518_1519insA
1 paper
NM_005475.3
p.R508insFs
c.1522dupC
1 paper
NM_005475.3
p.P507R
c.1520C>G
1 paper
NM_005475.3
p.S503fs
c.1507_1508fs
1 paper
NM_005475.3
p.G509insFs
c.1527dupG
1 paper
NM_005475.3
p.R508fs
c.1522_1523fs
3 papers
NM_005475.3
p.R508W
c.1522C>T
1 paper
NM_005475.3
p.G509delFs
c.1527delG
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