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.G490delFs

c.1470delG

Surrounding Variants

1 paper

NM_000276.4

p.S489Splc

c.1467-1G>A

1 paper

NM_000276.4

p.G490fs

c.1468_1469fs

1 paper

NM_000276.4

p.S489insFs

c.1467dupT

2 papers

NM_000276.4

p.S489Splc

c.1467-2A>G

2 papers

NM_000276.4

p.S489Splc

c.1467-3C>G

1 paper

NM_000276.4

p.K491fs

c.1471_1472fs

13 papers

NM_000276.4

p.R493W

c.1477C>T

1 paper

NM_000276.4

p.P495Q

c.1484C>A

5 papers

NM_000276.4

p.P495L

c.1484C>T

3 papers

NM_000276.4

p.W497G

c.1489T>G

3 papers

NM_000276.4

p.W497*

c.1490G>A

1 paper

NM_000276.4

p.W497*

c.1491G>A