Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.T404I

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.T404I
c.1211C>T
Surrounding Variants
1 paper
NM_005475.3
p.F405insFs
c.1214dupT
1 paper
NM_005475.3
p.L403P
c.1208T>C
1 paper
NM_005475.3
p.L403R
c.1208T>G
1 paper
NM_005475.3
p.L403delFs
c.1209delC
1 paper
NM_005475.3
p.L403F
c.1207C>T
1 paper
NM_005475.3
p.N406S
c.1217A>G
1 paper
NM_005475.3
p.N406delFs
c.1218delC
2 papers
NM_005475.3
p.F407_Q408insFs
c.1221_1222insT
11 papers
NM_005475.3
p.V402M
c.1204G>A
2 papers
NM_005475.3
p.V402L
c.1204G>C
2 papers
NM_005475.3
p.V402L
c.1204G>T
1 paper
NM_005475.3
p.Y401F
c.1202A>T
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