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.L374L

c.1122G>C

Surrounding Variants

1 paper

NM_020366.4

p.N375K

c.1125T>A

1 paper

NM_020366.4

p.N375K

c.1125T>G

1 paper

NM_020366.4

p.K372fs

c.1114_1115fs

1 paper

NM_020366.4

p.K372_N375delFs

c.1115_1125del11

1 paper

NM_020366.4

p.R371Q

c.1112G>A

2 papers

NM_020366.4

p.K372delFs

c.1116delA

1 paper

NM_020366.4

p.Y378insFs

c.1132_1133insA

1 paper

NM_020366.4

p.Y378_D379del1

c.1134_1136delTGA

6 papers

NM_020366.4

p.R371*

c.1111C>T

1 paper

NM_020366.4

p.D379del1

c.1135_1136delGAC

13 papers

NM_020366.4

p.E370fs

c.1108_1109fs

1 paper

NM_020366.4

p.E368fs

c.1102_1103fs