Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.E400K

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
24 papers
NM_005475.3
p.E400K
c.1198G>A
Surrounding Variants
1 paper
NM_005475.3
p.E400ins2
c.1198_1199ins6
1 paper
NM_005475.3
p.E400insFs
c.1198_1199insCT
2 papers
NM_005475.3
p.E400fs
c.1198_1199fs
1 paper
NM_005475.3
p.E400*
c.1198G>T
1 paper
NM_005475.3
p.E400fs
c.1198_1199fs
1 paper
NM_005475.3
p.G399G
c.1197G>A
1 paper
NM_005475.3
p.E400_Y401insFs
c.1200_1201ins7
2 papers
NM_005475.3
p.Y401H
c.1201T>C
1 paper
NM_005475.3
p.Y401fs
c.1201_1202fs
1 paper
NM_005475.3
p.Y401F
c.1202A>T
1 paper
NM_005475.3
p.E400insFs
c.1198_1199insG
1 paper
NM_005475.3
p.R398fs
c.1192_1193fs
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