Varaico: Literature-Extracted Genetic Variants

Gene:HSH2D
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_001382417.1
p.P10L
c.29C>T
1 paper
NM_001382417.1
p.L15M
c.43C>A
1 paper
NM_001382417.1
p.H20_P32delFs
c.60_94del35
1 paper
NM_001382417.1
p.G24S
c.70G>A
1 paper
NM_001382417.1
p.A27P
c.79G>C
1 paper
NM_001382417.1
p.Y135N
c.403T>A
1 paper
NM_001382417.1
p.A150V
c.449C>T
1 paper
NM_001382417.1
p.C190fs
c.568_569fs
1 paper
NM_001382417.1
p.C190insFs
c.570dupC
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
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