Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.F389L

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.F389L
c.1167C>A
Surrounding Variants
1 paper
NM_005475.3
p.F389L
c.1167C>G
2 papers
NM_005475.3
p.L390fs
c.1168_1169fs
1 paper
NM_005475.3
p.L390fs
c.1168_1169fs
1 paper
NM_005475.3
p.F389S
c.1166T>C
1 paper
NM_005475.3
p.F389C
c.1166T>G
4 papers
NM_005475.3
p.L390delFs
c.1168delC
1 paper
NM_005475.3
p.F389_V391Fs
c.1166_1171delinsCCFs
2 papers
NM_005475.3
p.F389L
c.1165T>C
1 paper
NM_005475.3
p.F389fs
c.1165_1166fs
1 paper
NM_005475.3
p.L390L
c.1170G>C
1 paper
NM_005475.3
p.V391_E400del10
c.1171_1199del30
12 papers
NM_005475.3
p.R392W
c.1174C>T
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