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

1 paper

NM_020366.4

p.A841T

c.2521G>A

Surrounding Variants

2 papers

NM_020366.4

p.I838V

c.2512A>G

2 papers

NM_020366.4

p.A837G

c.2510C>G

2 papers

NM_020366.4

p.P845L

c.2534C>T

1 paper

NM_020366.4

p.D849delFs

c.2545delG

1 paper

NM_020366.4

p.R852G

c.2554C>G

10 papers

NM_020366.4

p.R852*

c.2554C>T

6 papers

NM_020366.4

p.R852Q

c.2555G>A

2 papers

NM_020366.4

p.R827H

c.2480G>A

14 papers

NM_020366.4

p.R827L

c.2480G>T

3 papers

NM_020366.4

p.L856insFs

c.2566_2567insTT

1 paper

NM_020366.4

p.V857fs

c.2569_2570fs

1 paper

NM_020366.4

p.V857fs

c.2569_2570fs