Varaico: Literature-Extracted Genetic Variants

CD177

84 papers

RefSeq Summary

This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 ...

Pfam Domains

UPAR_LY6aa 39–113UCSCu-PAR/Ly-6 domain

UPAR_LY6aa 129–214UCSCu-PAR/Ly-6 domain

UPAR_LY6aa 225–302UCSCu-PAR/Ly-6 domain

UPAR_LY6aa 321–401UCSCu-PAR/Ly-6 domain

Gene Aliases

HGNC Name

CD177 molecule

HGNC Alias Symbols

PRV1; HNA2A; NB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020406.4

p.M139L

c.415A>T

Surrounding Variants

1 paper

NM_020406.4

p.M139L

c.415A>C

1 paper

NM_020406.4

p.G145A

c.434G>C

1 paper

NM_020406.4

p.L131F

c.393G>C

1 paper

NM_020406.4

p.L131F

c.393G>T

1 paper

NM_020406.4

p.L131L

c.391T>C

1 paper

NM_020406.4

p.S130S

c.390C>T

1 paper

NM_020406.4

p.S130F

c.389C>T

1 paper

NM_020406.4

p.E149Q

c.445G>C

1 paper

NM_020406.4

p.P128A

c.382C>G

1 paper

NM_020406.4

p.D127E

c.381C>G

2 papers

NM_020406.4

p.D127Splc

c.380-1G>C

1 paper

NM_020406.4

p.G154E

c.461G>A