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

11 papers

NM_020366.4

p.G746E

c.2237G>A

Surrounding Variants

12 papers

NM_020366.4

p.G746R

c.2236G>A

11 papers

NM_020366.4

p.G746R

c.2236G>C

1 paper

NM_020366.4

p.E749E

c.2247G>A

2 papers

NM_020366.4

p.Y750C

c.2249A>G

1 paper

NM_020366.4

p.G742fs

c.2224_2225fs

2 papers

NM_020366.4

p.G742delFs

c.2225_2226delGA

2 papers

NM_020366.4

p.G739Splc

c.2216-1G>A

1 paper

NM_020366.4

p.L754delFs

c.2261delT

1 paper

NM_020366.4

p.R755H

c.2264G>A

2 papers

NM_020366.4

p.L762L

c.2284C>T

1 paper

NM_020366.4

p.L762fs

c.2284_2285fs

2 papers

NM_020366.4

p.A764V

c.2291C>T