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.V835D

c.2504T>A

Surrounding Variants

1 paper

NM_000276.4

p.R837H

c.2510G>A

1 paper

NM_000276.4

p.C831*

c.2493C>A

1 paper

NM_000276.4

p.L839insFs

c.2516_2517insC

1 paper

NM_001587.4

p.R822*

c.2464A>T

2 papers

NM_000276.4

p.P829L

c.2486C>T

5 papers

NM_000276.4

p.R844*

c.2530C>T

1 paper

NM_000276.4

p.R844Q

c.2531G>A

1 paper

NM_000276.4

p.E845*

c.2533G>T

1 paper

NM_000276.4

p.V824fs

c.2470_2471fs

2 papers

NM_000276.4

p.Q823_V824Splc

c.2470-2A>G

1 paper

NM_000276.4

p.S850F

c.2549C>T

1 paper

NM_000276.4

p.E851insFs

c.2551_2552insT