Varaico: Literature-Extracted Genetic Variants

Gene:HSH2D
Variant:p.C190insFs

HSH2D

20 papers

RefSeq Summary

T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a...

Pfam Domains

SH2aa 34–109UCSCSH2 domain

Gene Aliases

HGNC Name

hematopoietic SH2 domain containing

HGNC Alias Symbols

HSH2; FLJ14886

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001382417.1
p.C190insFs
c.570dupC
Surrounding Variants
1 paper
NM_001382417.1
p.C190fs
c.568_569fs
1 paper
NM_001382417.1
p.S194Y
c.581C>A
1 paper
NM_001382417.1
p.P211L
c.632C>T
1 paper
NM_001382417.1
p.Q215Q
c.645G>A
2 papers
NM_001382417.1
p.L221fs
c.661_662fs
1 paper
NM_001382417.1
p.L221delFs
c.663delA
1 paper
NM_001382417.1
p.D235G
c.704A>G
1 paper
NM_001382417.1
p.T240M
c.719C>T
1 paper
NM_001382417.1
p.G256W
c.766G>T
1 paper
NM_001382417.1
p.Y265N
c.793T>A
1 paper
NM_001382417.1
p.P268L
c.803C>T
2 papers
NM_001382417.1
p.K292R
c.875A>G
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