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.V1206Splc

c.3616+7A>G

Surrounding Variants

1 paper

NM_015272.5

p.N1202Y

c.3604A>T

1 paper

NM_015272.5

p.W1198*

c.3594G>A

1 paper

NM_015272.5

p.W1198*

c.3593G>A

1 paper

NM_015272.5

p.V1188M

c.3562G>A

1 paper

NM_015272.5

p.E1184K

c.3550G>A

6 papers

NM_015272.5

p.A1183G

c.3548C>G

1 paper

NM_015272.5

p.P1182delFs

c.3545delG

1 paper

NM_015272.5

p.R1177Q

c.3530G>A

1 paper

NM_015272.5

p.R1177*

c.3529C>T

1 paper

NM_015272.5

p.V1174_E1175insFs

c.3522_3523insTG

1 paper

NM_015272.5

p.R1171W

c.3511C>T

1 paper

NM_015272.5

p.S1161Y

c.3482C>A