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

4 papers

NM_001040023.2

p.V132A

c.395T>C

Surrounding Variants

5 papers

NM_001040023.2

p.V132M

c.394G>A

1 paper

NM_001040023.2

p.D131del1

c.391_392delGAC

3 papers

NM_001040023.2

p.P129_D130del1

c.387_389delCGA

2 papers

NM_001040023.2

p.P129_D130del2

c.385_389del6

1 paper

NM_001040023.2

p.G127A

c.380G>C

1 paper

NM_001040023.2

p.Y119F

c.356A>T

1 paper

NM_001040023.2

p.R145R

c.435C>T

1 paper

NM_001040023.2

p.G117S

c.349G>A

4 papers

NM_001040023.2

p.G109S

c.325G>A

4 papers

NM_001040023.2

p.R107S

c.319C>A

1 paper

NM_001040023.2

p.D103E

c.309C>G

1 paper

NM_001040023.2

p.D103N

c.307G>A