Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.L222P

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.L222P
c.665T>C
Surrounding Variants
1 paper
NM_005475.3
p.L222Q
c.665T>A
1 paper
NM_005475.3
p.L222V
c.664C>G
7 papers
NM_005475.3
p.A223V
c.668C>T
1 paper
NM_005475.3
p.R221G
c.661A>G
1 paper
NM_005475.3
p.L224fs
c.670_671fs
1 paper
NM_005475.3
p.R221delFs
c.661delA
7 papers
NM_005475.3
p.G220V
c.659G>T
1 paper
NM_005475.3
p.R225_A227insFs
c.674_680dup7
1 paper
NM_005475.3
p.L224insFs
c.671_672ins7
9 papers
NM_005475.3
p.G220R
c.658G>A
9 papers
NM_005475.3
p.G220R
c.658G>C
1 paper
NM_005475.3
p.G220W
c.658G>T
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