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.Y272N

c.814T>A

Surrounding Variants

4 papers

NM_000276.4

p.Y272H

c.814T>C

4 papers

NM_000276.4

p.Y272C

c.815A>G

1 paper

NM_000276.4

p.I271N

c.812T>A

1 paper

NM_000276.4

p.I271T

c.812T>C

1 paper

NM_000276.4

p.C273R

c.817T>C

2 papers

NM_000276.4

p.D270N

c.808G>A

15 papers

NM_000276.4

p.I274T

c.821T>C

2 papers

NM_000276.4

p.G275E

c.824G>A

4 papers

NM_000276.4

p.G275A

c.824G>C

1 paper

NM_000276.4

p.N267H

c.799A>C

1 paper

NM_000276.4

p.P266A

c.796C>G

2 papers

NM_000276.4

p.D265_P266insGG

c.793_797ins6