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.C765Y

c.2294G>A

Surrounding Variants

2 papers

NM_020366.4

p.C765*

c.2295C>A

2 papers

NM_020366.4

p.A764V

c.2291C>T

1 paper

NM_020366.4

p.K767delFs

c.2299delA

8 papers

NM_020366.4

p.R768*

c.2302C>T

2 papers

NM_020366.4

p.L762L

c.2284C>T

1 paper

NM_020366.4

p.L762fs

c.2284_2285fs

1 paper

NM_020366.4

p.A771_Q772Fs

c.2313_2314delinsCFs

3 papers

NM_020366.4

p.Q772*

c.2314C>T

1 paper

NM_020366.4

p.L775delFs

c.2323_2324delCT

1 paper

NM_020366.4

p.R755H

c.2264G>A

1 paper

NM_020366.4

p.L754delFs

c.2261delT

2 papers

NM_020366.4

p.Y750C

c.2249A>G