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

14 papers

NM_020366.4

p.R827L

c.2480G>T

Surrounding Variants

2 papers

NM_020366.4

p.R827H

c.2480G>A

2 papers

NM_020366.4

p.A824fs

c.2470_2471fs

3 papers

NM_020366.4

p.Y823C

c.2468A>G

2 papers

NM_020366.4

p.P822_Y823insFs

c.2465_2468dup4

2 papers

NM_020366.4

p.A837G

c.2510C>G

1 paper

NM_020366.4

p.G817fs

c.2449_2450fs

2 papers

NM_020366.4

p.I838V

c.2512A>G

1 paper

NM_020366.4

p.R814L

c.2441G>T

4 papers

NM_020366.4

p.R814*

c.2440C>T

1 paper

NM_020366.4

p.A841T

c.2521G>A

1 paper

NM_020366.4

p.S813fs

c.2437_2438fs

1 paper

NM_020366.4

p.S813delFs

c.2437delA