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

2 papers

NM_015272.5

p.G754R

c.2260G>A

Surrounding Variants

2 papers

NM_015272.5

p.G754R

c.2260G>C

14 papers

NM_015272.5

p.R744Q

c.2231G>A

1 paper

NM_015272.5

p.E730_I743del14

c.2188_2228del42

1 paper

NM_015272.5

p.H765Y

c.2293C>T

1 paper

NM_015272.5

p.H765R

c.2294A>G

1 paper

NM_015272.5

p.E764_H765del2

c.2290_2294del6

1 paper

NM_015272.5

p.P763_Q767del5

c.2287_2300del15

1 paper

NM_015272.5

p.S768S

c.2304G>A

1 paper

NM_015272.5

p.S768_L769Splc

c.2304+1G>T

1 paper

NM_015272.5

p.P738delFs

c.2214delG

3 papers

NM_015272.5

p.R734*

c.2200C>T

1 paper

NM_015272.5

p.T728A

c.2182A>G