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.N100K

c.300C>G

Surrounding Variants

4 papers

NM_001040023.2

p.N100K

c.300C>A

5 papers

NM_001040023.2

p.N100D

c.298A>G

1 paper

NM_001040023.2

p.M102L

c.304A>C

1 paper

NM_001040023.2

p.M102L

c.304A>T

1 paper

NM_001040023.2

p.K98K

c.294G>A

1 paper

NM_001040023.2

p.D103N

c.307G>A

1 paper

NM_001040023.2

p.D103E

c.309C>G

1 paper

NM_001040023.2

p.T97fs

c.289_290fs

3 papers

NM_001040023.2

p.L96P

c.287T>C

2 papers

NM_001040023.2

p.L96fs

c.286_287fs

1 paper

NM_001040023.2

p.L96V

c.286C>G

3 papers

NM_001040023.2

p.L96F

c.286C>T