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.K467_A468Splc

c.1401+4A>G

Surrounding Variants

1 paper

NM_015272.5

p.L459_S460delFs

c.1377_1378delTC

1 paper

NM_015272.5

p.E451K

c.1351G>A

2 papers

NM_015272.5

p.E451fs

c.1351_1352fs

7 papers

NM_015272.5

p.Q450_E451Splc

c.1351-11A>G

1 paper

NM_015272.5

p.Q450_E451insFs

c.1350_1351ins10

1 paper

NM_015272.5

p.Q450delFs

c.1348_1349delTG

1 paper

NM_015272.5

p.L447fs

c.1339_1340fs

3 papers

NM_015272.5

p.L447S

c.1340T>C

1 paper

NM_015272.5

p.I445_K446insFs

c.1335_1336insT

1 paper

NM_015272.5

p.I445V

c.1333A>G

1 paper

NM_015272.5

p.K443_R444insFs

c.1329_1330insA

1 paper

NM_015272.5

p.R444fs

c.1330_1331fs