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.P698delFs

c.2092delC

Surrounding Variants

1 paper

NM_000276.4

p.E696*

c.2086G>T

8 papers

NM_000276.4

p.R695*

c.2083C>T

NM_001318784.2

p.R696*

c.2086C>T

1 paper

NM_000276.4

p.R695delFs

c.2083delC

1 paper

NM_000276.4

p.I694V

c.2080A>G

2 papers

NM_000276.4

p.P693L

c.2078C>T

1 paper

NM_000276.4

p.I703T

c.2108T>C

2 papers

NM_000276.4

p.K691*

c.2071A>T

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

1 paper

NM_000276.4

p.L705W

c.2114T>G