Varaico: Literature-Extracted Genetic Variants

SIRPA

164 papers

RefSeq Summary

The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane gly...

Pfam Domains

V-setaa 38–145UCSCImmunoglobulin V-set domain

C1-setaa 152–235UCSCImmunoglobulin C1-set domain

C1-setaa 256–338UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

signal regulatory protein alpha

HGNC Previous Symbol

PTPNS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040023.2

p.V63A

c.188T>C

Surrounding Variants

1 paper

NM_001040023.2

p.T58P

c.172A>C

1 paper

NM_001040023.2

p.A57G

c.170C>G

3 papers

NM_001040023.2

p.A57V

c.170C>T

1 paper

NM_001040023.2

p.T56P

c.166A>C

1 paper

NM_001040023.2

p.T56A

c.166A>G

1 paper

NM_001040023.2

p.C55R

c.163T>C

2 papers

NM_001040023.2

p.A72S

c.214G>T

2 papers

NM_001040023.2

p.A72V

c.215C>T

2 papers

NM_001040023.2

p.R54H

c.161G>A

1 paper

NM_001040023.2

p.P74A

c.220C>G

1 paper

NM_001040023.2

p.P74Q

c.221C>A

3 papers

NM_001040023.2

p.G75A

c.224G>C