Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.Y203C

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
4 papers
NM_005475.3
p.Y203C
c.608A>G
Surrounding Variants
2 papers
NM_005475.3
p.R202fs
c.604_605fs
8 papers
NM_005475.3
p.L205V
c.613C>G
2 papers
NM_005475.3
p.L205L
c.613C>T
1 paper
NM_005475.3
p.L205Q
c.614T>A
1 paper
NM_005475.3
p.L201L
c.601C>T
1 paper
NM_005475.3
p.L201fs
c.601_602fs
1 paper
NM_005475.3
p.L201_R202delFs
c.601_604del4
6 papers
NM_005475.3
p.L201_Y203delFs
c.603_607del5
1 paper
NM_005475.3
p.V200_Y203del0
c.600_608del9
2 papers
NM_005475.3
p.D207N
c.619G>A
1 paper
NM_005475.3
p.A199_D207insFs
c.597_619dup23
2 papers
NM_005475.3
p.A199V
c.596C>T
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