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

2 papers

NM_000276.4

p.C498delFs

c.1493delG

Surrounding Variants

5 papers

NM_000276.4

p.C498Y

c.1493G>A

1 paper

NM_000276.4

p.W497*

c.1491G>A

1 paper

NM_000276.4

p.C498_T506del9

c.1492_1517del27

3 papers

NM_000276.4

p.W497*

c.1490G>A

3 papers

NM_000276.4

p.D499H

c.1495G>C

1 paper

NM_000276.4

p.D499ins7

c.1495_1496ins21

3 papers

NM_000276.4

p.W497G

c.1489T>G

7 papers

NM_000276.4

p.D499A

c.1496A>C

5 papers

NM_000276.4

p.R500G

c.1498C>G

2 papers

NM_000276.4

p.R500*

c.1498C>T

11 papers

NM_000276.4

p.R500Q

c.1499G>A

1 paper

NM_000276.4

p.P495Q

c.1484C>A