Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R148R

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.R148R
c.444C>A
Surrounding Variants
1 paper
NM_005475.3
p.R149S
c.445C>A
1 paper
NM_005475.3
p.R148H
c.443G>A
1 paper
NM_005475.3
p.R148fs
c.442_443fs
1 paper
NM_005475.3
p.A151_G152insFs
c.452_455dup4
1 paper
NM_005475.3
p.S150*
c.449C>A
1 paper
NM_005475.3
p.R147C
c.439C>T
1 paper
NM_005475.3
p.R147_A156delFs
c.441_468del28
1 paper
NM_005475.3
p.A151T
c.451G>A
1 paper
NM_005475.3
p.R147delFs
c.439delC
1 paper
NM_005475.3
p.A151V
c.452C>T
1 paper
NM_005475.3
p.F146fs
c.436_437fs
1 paper
NM_005475.3
p.F146fs
c.436_437fs
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