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

4 papers

NM_000276.4

p.W503R

c.1507T>C

Surrounding Variants

4 papers

NM_000276.4

p.W503R

c.1507T>A

5 papers

NM_000276.4

p.I501S

c.1502T>G

1 paper

NM_000276.4

p.I501F

c.1501A>T

1 paper

NM_000276.4

p.G505E

c.1514G>A

2 papers

NM_000276.4

p.G505V

c.1514G>T

11 papers

NM_000276.4

p.R500Q

c.1499G>A

1 paper

NM_000276.4

p.T506delFs

c.1517delC

5 papers

NM_000276.4

p.R500G

c.1498C>G

2 papers

NM_000276.4

p.R500*

c.1498C>T

1 paper

NM_000276.4

p.T506delFs

c.1518delA

7 papers

NM_000276.4

p.D499A

c.1496A>C

3 papers

NM_000276.4

p.D499H

c.1495G>C