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.V682V

c.2046C>T

Surrounding Variants

6 papers

NM_015272.5

p.Q684*

c.2050C>T

6 papers

NM_015272.5

p.T677I

c.2030C>T

1 paper

NM_015272.5

p.T688A

c.2062A>G

1 paper

NM_015272.5

p.I673_Q674del2

c.2017_2021del6

1 paper

NM_015272.5

p.E691K

c.2071G>A

1 paper

NM_015272.5

p.I673T

c.2018T>C

1 paper

NM_015272.5

p.E689_T692del4

c.2065_2075del12

1 paper

NM_015272.5

p.Q671*

c.2011C>T

3 papers

NM_015272.5

p.A695P

c.2083G>C

1 paper

NM_015272.5

p.Q697_K699del3

c.2089_2096del9

1 paper

NM_015272.5

p.L662F

c.1984C>T

1 paper

NM_015272.5

p.E705*

c.2113G>T