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.L662F

c.1984C>T

Surrounding Variants

5 papers

NM_015272.5

p.S659P

c.1975T>C

1 paper

NM_015272.5

p.Y655C

c.1964A>G

1 paper

NM_015272.5

p.G650_P653del4

c.1948_1958del12

1 paper

NM_015272.5

p.E654K

c.1960G>A

1 paper

NM_015272.5

p.H652_P653del2

c.1954_1958del6

1 paper

NM_015272.5

p.Q671*

c.2011C>T

1 paper

NM_015272.5

p.L651P

c.1952T>C

1 paper

NM_015272.5

p.I673T

c.2018T>C

3 papers

NM_015272.5

p.R649*

c.1945C>T

1 paper

NM_015272.5

p.I673_Q674del2

c.2017_2021del6

1 paper

NM_015272.5

p.V647I

c.1939G>A

6 papers

NM_015272.5

p.T677I

c.2030C>T