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

3 papers

NM_000276.4

p.C679W

c.2037T>G

Surrounding Variants

5 papers

NM_000276.4

p.F680S

c.2039T>C

1 paper

NM_000276.4

p.C679R

c.2035T>C

1 paper

NM_000276.4

p.S678G

c.2032A>G

1 paper

NM_000276.4

p.G681V

c.2042G>T

6 papers

NM_000276.4

p.L687P

c.2060T>C

1 paper

NM_000276.4

p.M690I

c.2070G>A

1 paper

NM_000276.4

p.M690I

c.2070G>C

1 paper

NM_000276.4

p.M690I

c.2070G>T

1 paper

NM_000276.4

p.K691delFs

c.2071delA

2 papers

NM_000276.4

p.K691*

c.2071A>T

11 papers

NM_000276.4

p.F668V

c.2002T>G

2 papers

NM_000276.4

p.P693L

c.2078C>T