Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.F240L

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.F240L
c.720C>A
Surrounding Variants
1 paper
NM_005475.3
p.F240L
c.720C>G
1 paper
NM_005475.3
p.F240F
c.720C>T
2 papers
NM_005475.3
p.D241N
c.721G>A
1 paper
NM_005475.3
p.F240delFs
c.720delC
1 paper
NM_005475.3
p.F240L
c.718T>C
1 paper
NM_005475.3
p.F240delFs
c.719delT
15 papers
NM_005475.3
p.P242S
c.724C>T
1 paper
NM_005475.3
p.L239H
c.716T>A
1 paper
NM_005475.3
p.L239P
c.716T>C
1 paper
NM_005475.3
p.P242P
c.726A>C
1 paper
NM_005475.3
p.P243ins2
c.727_728ins6
1 paper
NM_005475.3
p.P243P
c.729C>T
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