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

1–12 of 419 variants

42 papers

NM_015272.5

p.A229T

c.685G>A

33 papers

NM_015272.5

p.R77*

c.229A>T

14 papers

NM_015272.5

p.R744Q

c.2231G>A

13 papers

NM_015272.5

p.T615P

c.1843A>C

8 papers

NM_015272.5

p.L57F

c.171G>T

8 papers

NM_015272.5

p.L57F

c.171G>C

8 papers

NM_015272.5

p.D1264N

c.3790G>A

7 papers

NM_015272.5

p.Q450_E451Splc

c.1351-11A>G

6 papers

NM_015272.5

p.T677I

c.2030C>T

6 papers

NM_015272.5

p.Q684*

c.2050C>T

6 papers

NM_015272.5

p.G1025S

c.3073G>A

6 papers

NM_015272.5

p.A1183G

c.3548C>G