Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R143L

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.R143L
c.428G>T
Surrounding Variants
1 paper
NM_005475.3
p.R143C
c.427C>T
1 paper
NM_005475.3
p.H144L
c.431A>T
1 paper
NM_005475.3
p.L142F
c.424C>T
1 paper
NM_005475.3
p.I145V
c.433A>G
1 paper
NM_005475.3
p.I145I
c.435C>T
1 paper
NM_005475.3
p.F146fs
c.436_437fs
1 paper
NM_005475.3
p.F146fs
c.436_437fs
4 papers
NM_005475.3
p.R140H
c.419G>A
1 paper
NM_005475.3
p.R140L
c.419G>T
1 paper
NM_005475.3
p.R147delFs
c.439delC
1 paper
NM_005475.3
p.R147_A156delFs
c.441_468del28
1 paper
NM_005475.3
p.R147C
c.439C>T
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