Varaico: Literature-Extracted Genetic Variants

RPGRIP1L

327 papers

RefSeq Summary

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocyst...

Pfam Domains

C2-C2_1aa 597–738UCSCFirst C2 domain of RPGR-interacting protein 1

C2aa 790–899UCSCC2 domain

RPGR1_Caa 1099–1262UCSCRetinitis pigmentosa G-protein regulator interacting C-terminal

Gene Aliases

HGNC Name

RPGRIP1 like

HGNC Alias Symbols

KIAA1005; CORS3; JBTS7; MKS5; NPHP8; FTM; PPP1R134

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015272.5

p.R69H

c.206G>A

Surrounding Variants

1 paper

NM_015272.5

p.R69C

c.205C>T

1 paper

NM_015272.5

p.A68T

c.202G>A

1 paper

NM_015272.5

p.H67R

c.200A>G

1 paper

NM_015272.5

p.Q66K

c.196C>A

1 paper

NM_015272.5

p.D73H

c.217G>C

1 paper

NM_015272.5

p.D73E

c.219T>G

1 paper

NM_015272.5

p.D73E

c.219T>A

1 paper

NM_015272.5

p.D73delFs

c.219delA

1 paper

NM_015272.5

p.I75V

c.223A>G

1 paper

NM_015272.5

p.I62insFs

c.185_186ins5

33 papers

NM_015272.5

p.R77*

c.229A>T

1 paper

NM_015272.5

p.E60_N61insATA

c.178_182ins9