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.D566N

c.1696G>A

Surrounding Variants

4 papers

NM_020366.4

p.R563*

c.1687C>T

1 paper

NM_020366.4

p.N570S

c.1709A>G

1 paper

NM_020366.4

p.R560K

c.1679G>A

1 paper

NM_020366.4

p.L579*

c.1736T>A

1 paper

NM_020366.4

p.L579*

c.1736T>G

1 paper

NM_020366.4

p.R580G

c.1738A>G

1 paper

NM_020366.4

p.H582R

c.1745A>G

6 papers

NM_020366.4

p.P585S

c.1753C>T

1 paper

NM_020366.4

p.A547T

c.1639G>A

22 papers

NM_020366.4

p.A547S

c.1639G>T

1 paper

NM_020366.4

p.P585R

c.1754C>G

1 paper

NM_020366.4

p.A542delFs

c.1624delG