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

3 papers

NM_020366.4

p.V364fs

c.1090_1091fs

Surrounding Variants

1 paper

NM_020366.4

p.R363T

c.1088G>C

1 paper

NM_020366.4

p.R363fs

c.1087_1088fs

1 paper

NM_020366.4

p.E362fs

c.1084_1085fs

3 papers

NM_020366.4

p.Q361_E362insFs

c.1083_1084insGA

2 papers

NM_020366.4

p.E362_R363delFs

c.1084_1087del4

1 paper

NM_020366.4

p.E368fs

c.1102_1103fs

27 papers

NM_020366.4

p.K369delFs

c.1107delA

1 paper

NM_020366.4

p.E359_F360Splc

c.1078-1G>A

1 paper

NM_020366.4

p.E359_F360Splc

c.1078-2A>C

13 papers

NM_020366.4

p.E370fs

c.1108_1109fs

6 papers

NM_020366.4

p.R371*

c.1111C>T

1 paper

NM_020366.4

p.R371Q

c.1112G>A