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

7 papers

NM_020406.4

p.H31L

c.92A>T

Surrounding Variants

1 paper

NM_020406.4

p.W33S

c.98G>C

2 papers

NM_020406.4

p.L38L

c.114G>A

1 paper

NM_020406.4

p.R40L

c.119G>T

1 paper

NM_020406.4

p.L22_G27delFs

c.64_80del17

1 paper

NM_020406.4

p.Q41H

c.123A>T

1 paper

NM_020406.4

p.Q20L

c.59A>T

1 paper

NM_020406.4

p.P44A

c.130C>G

6 papers

NM_020406.4

p.K45M

c.134A>T

1 paper

NM_020406.4

p.G18Splc

c.53-6C>T

1 paper

NM_020406.4

p.T47T

c.141C>G

1 paper

NM_020406.4

p.C49G

c.145T>G

1 paper

NM_020406.4

p.C49C

c.147C>T