Varaico: Literature-Extracted Genetic Variants

RPGRIP1

443 papers

RefSeq Summary

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to a...

Pfam Domains

C2-C2_1aa 618–757UCSCFirst C2 domain of RPGR-interacting protein 1

C2aa 799–908UCSCC2 domain

RPGR1_Caa 1114–1279UCSCRetinitis pigmentosa G-protein regulator interacting C-terminal

Gene Aliases

HGNC Name

RPGR interacting protein 1

HGNC Alias Symbols

RGI1; LCA6; CORD13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_020366.4

p.R890Q

c.2669G>A

Surrounding Variants

13 papers

NM_020366.4

p.R890*

c.2668C>T

1 paper

NM_020366.4

p.A889T

c.2665G>A

8 papers

NM_020366.4

p.R888*

c.2662C>T

1 paper

NM_020366.4

p.L886I

c.2656C>A

3 papers

NM_020366.4

p.L886F

c.2656C>T

3 papers

NM_020366.4

p.P895_L896del2

c.2683_2687del6

1 paper

NM_020366.4

p.L896_A897insT

c.2686_2690ins3

1 paper

NM_020366.4

p.A897fs

c.2689_2690fs

1 paper

NM_020366.4

p.A897delFs

c.2690delC

1 paper

NM_020366.4

p.G883D

c.2648G>A

2 papers

NM_020366.4

p.P882S

c.2644C>T

1 paper

NM_020366.4

p.N899S

c.2696A>G