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.I336_R337insFs

c.1008_1009insT

Surrounding Variants

3 papers

NM_000276.4

p.Y335*

c.1005C>A

3 papers

NM_000276.4

p.Y335*

c.1005C>G

4 papers

NM_000276.4

p.R337C

c.1009C>T

1 paper

NM_000276.4

p.R337H

c.1010G>A

1 paper

NM_000276.4

p.R337P

c.1010G>C

5 papers

NM_000276.4

p.R334P

c.1001G>C

5 papers

NM_000276.4

p.R334*

c.1000C>T

1 paper

NM_000276.4

p.Q332R

c.995A>G

1 paper

NM_000276.4

p.D331insFs

c.992_993ins8

1 paper

NM_000276.4

p.Q332_C333del2

c.994_998del6

1 paper

NM_000276.4

p.D331N

c.991G>A

1 paper

NM_000276.4

p.T341I

c.1022C>T