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.M322T

c.965T>C

Surrounding Variants

6 papers

NM_000276.4

p.G321E

c.962G>A

1 paper

NM_000276.4

p.L324R

c.971T>G

1 paper

NM_000276.4

p.V320del1

c.958_960delGTT

1 paper

NM_000276.4

p.L325_I326insFs

c.975_976insA

6 papers

NM_000276.4

p.R318H

c.953G>A

3 papers

NM_000276.4

p.R318L

c.953G>T

1 paper

NM_000276.4

p.R318S

c.952C>A

1 paper

NM_000276.4

p.R318_L319insFs

c.953_956dup4

25 papers

NM_000276.4

p.R318C

c.952C>T

4 papers

NM_000276.4

p.A328P

c.982G>C

1 paper

NM_000276.4

p.R329insFs

c.985_986insA

1 paper

NM_000276.4

p.Q315*

c.943C>T