Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.F87L

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
2 papers
NM_002351.5
p.F87L
c.259T>C
Surrounding Variants
1 paper
NM_002351.5
p.F87fs
c.259_260fs
3 papers
NM_002351.5
p.F87delFs
c.261delT
12 papers
NM_002351.5
p.F87S
c.260T>C
1 paper
NM_002351.5
p.F87C
c.260T>G
1 paper
NM_002351.5
p.A86V
c.257C>T
1 paper
NM_002351.5
p.Q88*
c.262C>T
1 paper
NM_002351.5
p.Q88fs
c.262_263fs
1 paper
NM_002351.5
p.A86fs
c.256_257fs
2 papers
NM_002351.5
p.Q88P
c.263A>C
1 paper
NM_002351.5
p.S85S
c.255A>T
1 paper
NM_002351.5
p.S85P
c.253T>C
6 papers
NM_002351.5
p.I84T
c.251T>C
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