Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.Q66R

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
2 papers
NM_005475.3
p.Q66R
c.197A>G
Surrounding Variants
1 paper
NM_005475.3
p.Q66*
c.196C>T
1 paper
NM_005475.3
p.F67L
c.199T>C
1 paper
NM_005475.3
p.F67L
c.201C>A
1 paper
NM_005475.3
p.F67L
c.201C>G
2 papers
NM_005475.3
p.L65delFs
c.193_194delCT
2 papers
NM_005475.3
p.S64*
c.191C>A
1 paper
NM_005475.3
p.S64L
c.191C>T
1 paper
NM_005475.3
p.D69N
c.205G>A
1 paper
NM_005475.3
p.D69G
c.206A>G
1 paper
NM_005475.3
p.V63delFs
c.188_189delTG
1 paper
NM_005475.3
p.F71L
c.211T>C
1 paper
NM_005475.3
p.E61V
c.182A>T
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