Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.P11P

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.P11P
c.33C>G
Surrounding Variants
1 paper
NM_005475.3
p.S12F
c.35C>T
1 paper
NM_005475.3
p.S12_S16del0
c.36_47del12
1 paper
NM_005475.3
p.S9Y
c.26C>A
2 papers
NM_005475.3
p.S9F
c.26C>T
1 paper
NM_005475.3
p.S9A
c.25T>G
1 paper
NM_005475.3
p.Q7fs
c.19_20fs
1 paper
NM_005475.3
p.L6Q
c.17T>A
3 papers
NM_005475.3
p.L6P
c.17T>C
1 paper
NM_005475.3
p.L6delFs
c.18delG
1 paper
NM_005475.3
p.A5G
c.14C>G
1 paper
NM_005475.3
p.P19L
c.56C>T
1 paper
NM_005475.3
p.P19P
c.57G>A
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