Varaico: Literature-Extracted Genetic Variants

OCRL

333 papers

RefSeq Summary

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi networ...

Pfam Domains

OCRL_clath_bdaa 18–118UCSCInositol polyphosphate 5-phosphatase clathrin binding domain

Exo_endo_phosaa 245–524UCSCEndonuclease/Exonuclease/phosphatase family

OCRL-like_ASHaa 567–675UCSCInositol polyphosphate 5-phosphatase OCRL-like, ASH domain

RhoGAPaa 735–873UCSCRhoGAP domain

Gene Aliases

HGNC Name

OCRL inositol polyphosphate-5-phosphatase

HGNC Alias Symbols

OCRL1; Dent-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000276.4

p.V643insFs

c.1928_1929insG

Surrounding Variants

1 paper

NM_000276.4

p.V643_T644delFs

c.1929_1930delAA

1 paper

NM_000276.4

p.V643fs

c.1927_1928fs

1 paper

NM_000276.4

p.S642C

c.1925C>G

2 papers

NM_000276.4

p.V643delFs

c.1927_1928delGT

1 paper

NM_000276.4

p.S642delFs

c.1925delC

1 paper

NM_000276.4

p.S642delFs

c.1924delT

1 paper

NM_000276.4

p.S642delFs

c.1925_1926delCT

1 paper

NM_000276.4

p.L646delFs

c.1938delG

1 paper

NM_000276.4

p.Y637*

c.1911T>A

1 paper

NM_000276.4

p.Y637*

c.1911T>G

1 paper

NM_000276.4

p.V636E

c.1907T>A

1 paper

NM_000276.4

p.V636M

c.1906G>A