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.E800Q

c.2398G>C

Surrounding Variants

4 papers

NM_020366.4

p.E800K

c.2398G>A

1 paper

NM_020366.4

p.W802delFs

c.2405_2406delGG

1 paper

NM_020366.4

p.P797S

c.2389C>T

1 paper

NM_020366.4

p.I805_C809del5

c.2413_2426del15

4 papers

NM_020366.4

p.T806I

c.2417C>T

1 paper

NM_020366.4

p.C808delFs

c.2422delT

1 paper

NM_020366.4

p.C808fs

c.2422_2423fs

1 paper

NM_020366.4

p.F790fs

c.2368_2369fs

1 paper

NM_020366.4

p.L811H

c.2432T>A

1 paper

NM_020366.4

p.R812W

c.2434C>T

5 papers

NM_020366.4

p.R812Q

c.2435G>A

1 paper

NM_020366.4

p.S813delFs

c.2437delA