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

6 papers

NM_015272.5

p.G1025S

c.3073G>A

Surrounding Variants

1 paper

NM_015272.5

p.D1028delFs

c.3082delC

1 paper

NM_015272.5

p.K1031delFs

c.3092delT

2 papers

NM_015272.5

p.Q1039R

c.3116A>G

1 paper

NM_015272.5

p.D1042G

c.3125A>G

1 paper

NM_015272.5

p.S1060_E1061insC

c.3178_3182ins3

1 paper

NM_015272.5

p.I1066_T1067insFs

c.3198_3199insTC

1 paper

NM_001127897.4

p.V1040Splc

c.3118+1G>A

1 paper

NM_015272.5

p.L1013L

c.3037C>T

1 paper

NM_015272.5

p.E1009G

c.3026A>G

1 paper

NM_015272.5

p.I1008L

c.3022A>T

1 paper

NM_015272.5

p.I1008L

c.3022A>C

1 paper

NM_015272.5

p.H1004Y

c.3010C>T