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

12 papers

NM_000276.4

p.H524R

c.1571A>G

Surrounding Variants

2 papers

NM_000276.4

p.H524Q

c.1572C>A

2 papers

NM_000276.4

p.H524Q

c.1572C>G

4 papers

NM_000276.4

p.K525Q

c.1573A>C

1 paper

NM_000276.4

p.H524_K525del2

c.1570_1574del6

8 papers

NM_000276.4

p.D523G

c.1568A>G

19 papers

NM_000276.4

p.D523N

c.1567G>A

2 papers

NM_000276.4

p.D523Y

c.1567G>T

1 paper

NM_000276.4

p.P526del1

c.1576_1578delCCT

5 papers

NM_000276.4

p.S522R

c.1566C>A

4 papers

NM_000276.4

p.P526T

c.1576C>A

5 papers

NM_000276.4

p.S522R

c.1566C>G

8 papers

NM_000276.4

p.P526S

c.1576C>T