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

8 papers

NM_015272.5

p.D1264N

c.3790G>A

Surrounding Variants

1 paper

NM_015272.5

p.D1264Y

c.3790G>T

1 paper

NM_015272.5

p.D1261N

c.3781G>A

1 paper

NM_015272.5

p.I1255T

c.3764T>C

1 paper

NM_015272.5

p.D1278N

c.3832G>A

3 papers

NM_015272.5

p.D1249Y

c.3745G>T

1 paper

NM_015272.5

p.P1243_P1244del2

c.3727_3731del6

1 paper

NM_015272.5

p.V1239M

c.3715G>A

4 papers

NM_015272.5

p.R1236C

c.3706C>T

1 paper

NM_015272.5

p.G1286V

c.3857G>T

1 paper

NM_015272.5

p.G1290_K1291del2

c.3868_3872del6

1 paper

NM_015272.5

p.E1297K

c.3889G>A

1 paper

NM_015272.5

p.K1307N

c.3921G>T