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.R1189*

c.3565C>T

Surrounding Variants

1 paper

NM_020366.4

p.R1189fs

c.3565_3566fs

5 papers

NM_020366.4

p.R1189fs

c.3565_3566fs

2 papers

NM_020366.4

p.R1190S

c.3570G>C

2 papers

NM_020366.4

p.R1190S

c.3570G>T

13 papers

NM_020366.4

p.R1189_R1191delFs

c.3565_3571del7

2 papers

NM_020366.4

p.D1180E

c.3540C>A

2 papers

NM_020366.4

p.D1180E

c.3540C>G

1 paper

NM_020366.4

p.N1198K

c.3594T>A

1 paper

NM_020366.4

p.N1198K

c.3594T>G

4 papers

NM_020366.4

p.D1203delFs

c.3609delT

1 paper

NM_020366.4

p.Q1204fs

c.3610_3611fs

1 paper

NM_020366.4

p.G1205*

c.3613G>T