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.L1125P

c.3374T>C

Surrounding Variants

1 paper

NM_020366.4

p.A1126V

c.3377C>T

2 papers

NM_020366.4

p.S1124P

c.3370T>C

1 paper

NM_020366.4

p.E1121A

c.3362A>C

1 paper

NM_020366.4

p.E1121K

c.3361G>A

1 paper

NM_020366.4

p.E1130Q

c.3388G>C

5 papers

NM_020366.4

p.I1120V

c.3358A>G

1 paper

NM_020366.4

p.K1117*

c.3349A>T

22 papers

NM_020366.4

p.D1114G

c.3341A>G

1 paper

NM_020366.4

p.Q1141*

c.3421C>T

1 paper

NM_020366.4

p.Y1143C

c.3428A>G

1 paper

NM_020366.4

p.V1144M

c.3430G>A

1 paper

NM_020366.4

p.F1148_L1151del4

c.3442_3452del12