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

42 papers

NM_015272.5

p.A229T

c.685G>A

Surrounding Variants

1 paper

NM_015272.5

p.E230_I231delFs

c.689_692del4

1 paper

NM_015272.5

p.L225delFs

c.673_674delAA

4 papers

NM_015272.5

p.K233*

c.697A>T

1 paper

NM_015272.5

p.T234I

c.701C>T

1 paper

NM_015272.5

p.L236F

c.708G>C

1 paper

NM_015272.5

p.R237W

c.709A>T

1 paper

NM_015272.5

p.R238R

c.714A>G

1 paper

NM_015272.5

p.R237_R238delFs

c.711_714del4

1 paper

NM_015272.5

p.Q218delFs

c.652_653delTG

1 paper

NM_015272.5

p.S217_Q218delFs

c.650_653del4

1 paper

NM_015272.5

p.N241fs

c.721_722fs

1 paper

NM_015272.5

p.V214insFs

c.641dupT