Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.S213R

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
19 papers
NM_005475.3
p.S213R
c.637A>C
Surrounding Variants
1 paper
NM_005475.3
p.S213insFs
c.637_638insAG
19 papers
NM_005475.3
p.S213R
c.639C>A
19 papers
NM_005475.3
p.S213R
c.639C>G
1 paper
NM_005475.3
p.G214_A215delFs
c.642_643delGG
1 paper
NM_005475.3
p.G214R
c.640G>A
1 paper
NM_005475.3
p.G214R
c.640G>C
1 paper
NM_005475.3
p.M211I
c.633G>A
1 paper
NM_005475.3
p.M211I
c.633G>C
1 paper
NM_005475.3
p.M211I
c.633G>T
1 paper
NM_005475.3
p.A215_Q218delFs
c.643_652del10
2 papers
NM_005475.3
p.M211T
c.632T>C
1 paper
NM_005475.3
p.M211fs
c.631_632fs
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