Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.E67_T68Splc

SH2D1A

362 papers

RefSeq Summary

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte...

Pfam Domains

SH2aa 6–87UCSCSH2 domain

Gene Aliases

HGNC Name

SH2 domain containing 1A

HGNC Previous Symbols

IMD5; LYP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002351.5
p.E67_T68Splc
c.201+2T>A
Surrounding Variants
4 papers
NM_002351.5
p.E67_T68Splc
c.201+3A>G
4 papers
NM_002351.5
p.E67_T68Splc
c.201+1G>A
1 paper
NM_002351.5
p.E67_T68Splc
c.201+1G>T
6 papers
NM_002351.5
p.E67E
c.201G>A
7 papers
NM_002351.5
p.E67D
c.201G>C
9 papers
NM_002351.5
p.E67D
c.201G>T
4 papers
NM_002351.5
p.E67G
c.200A>G
1 paper
NM_002351.5
p.E67*
c.199G>T
1 paper
NM_002351.5
p.E67del1
c.199_200delGAG
2 papers
NM_002351.5
p.A66V
c.197C>T
1 paper
NM_002351.5
p.A66P
c.196G>C
1 paper
NM_002351.5
p.A66fs
c.196_197fs
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