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

1–12 of 115 variants

5 papers

NM_001040023.2

p.N100D

c.298A>G

5 papers

NM_001040023.2

p.V132M

c.394G>A

4 papers

NM_001040023.2

p.L44S

c.131T>C

4 papers

NM_001040023.2

p.D95E

c.285C>A

4 papers

NM_001040023.2

p.D95E

c.285C>G

4 papers

NM_001040023.2

p.N100K

c.300C>A

4 papers

NM_001040023.2

p.N100K

c.300C>G

4 papers

NM_001040023.2

p.R107S

c.319C>A

4 papers

NM_001040023.2

p.G109S

c.325G>A

4 papers

NM_001040023.2

p.V132A

c.395T>C

3 papers

NM_001040023.2

p.W25*

c.75G>A

3 papers

NM_001040023.2

p.A57V

c.170C>T