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

13 papers

NM_015272.5

p.T615P

c.1843A>C

Surrounding Variants

3 papers

NM_015272.5

p.H610P

c.1829A>C

1 paper

NM_015272.5

p.Q622*

c.1864C>T

5 papers

NM_015272.5

p.E604K

c.1810G>A

1 paper

NM_015272.5

p.D626G

c.1877A>G

1 paper

NM_015272.5

p.R602*

c.1804C>T

3 papers

NM_015272.5

p.C633R

c.1897T>C

1 paper

NM_015272.5

p.E596K

c.1786G>A

1 paper

NM_015272.5

p.Y635C

c.1904A>G

1 paper

NM_015272.5

p.F637L

c.1909T>C

1 paper

NM_015272.5

p.F637L

c.1911C>G

1 paper

NM_015272.5

p.F637L

c.1911C>A

1 paper

NM_015272.5

p.S590delFs

c.1769_1770delAG