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.L57F

c.171G>C

Surrounding Variants

8 papers

NM_015272.5

p.L57F

c.171G>T

1 paper

NM_015272.5

p.H58N

c.172C>A

1 paper

NM_015272.5

p.L57M

c.169T>A

1 paper

NM_015272.5

p.R56H

c.167G>A

1 paper

NM_015272.5

p.R56C

c.166C>T

1 paper

NM_015272.5

p.E60_N61insATA

c.178_182ins9

1 paper

NM_015272.5

p.F54L

c.162T>A

1 paper

NM_015272.5

p.I62insFs

c.185_186ins5

1 paper

NM_015272.5

p.R53_F54ins4

c.157_161ins12

1 paper

NM_015272.5

p.L50fs

c.148_149fs

1 paper

NM_015272.5

p.L50delFs

c.149delA

1 paper

NM_015272.5

p.L50R

c.149T>G