Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.K373insFs

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.K373insFs
c.1117_1118insT
Surrounding Variants
1 paper
NM_005475.3
p.K373E
c.1117A>G
1 paper
NM_005475.3
p.K373*
c.1117A>T
1 paper
NM_005475.3
p.K373_A374insFs
c.1119_1120insC
1 paper
NM_005475.3
p.A374T
c.1120G>A
1 paper
NM_005475.3
p.R371G
c.1111A>G
1 paper
NM_005475.3
p.A375T
c.1123G>A
1 paper
NM_005475.3
p.A375P
c.1123G>C
1 paper
NM_005475.3
p.S370insFs
c.1109_1110insGG
1 paper
NM_005475.3
p.S370C
c.1109C>G
2 papers
NM_005475.3
p.Q376*
c.1126C>T
1 paper
NM_005475.3
p.I369_S370delFs
c.1107_1108delCT
1 paper
NM_005475.3
p.P368insFs
c.1103_1104insAC
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