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

1–12 of 699 variants

27 papers

NM_020366.4

p.K369delFs

c.1107delA

22 papers

NM_020366.4

p.A547S

c.1639G>T

22 papers

NM_020366.4

p.D1114G

c.3341A>G

14 papers

NM_020366.4

p.R827L

c.2480G>T

14 papers

NM_020366.4

p.R1189*

c.3565C>T

13 papers

NM_020366.4

p.E370fs

c.1108_1109fs

13 papers

NM_020366.4

p.R890*

c.2668C>T

13 papers

NM_020366.4

p.R1189_R1191delFs

c.3565_3571del7

12 papers

NM_020366.4

p.G746R

c.2236G>A

11 papers

NM_020366.4

p.G746R

c.2236G>C

11 papers

NM_020366.4

p.G746E

c.2237G>A

10 papers

NM_020366.4

p.R852*

c.2554C>T