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

1–12 of 732 variants

25 papers

NM_000276.4

p.R318C

c.952C>T

19 papers

NM_000276.4

p.D523N

c.1567G>A

15 papers

NM_000276.4

p.I274T

c.821T>C

14 papers

NM_000276.4

p.K313_V314Splc

c.940-11G>A

13 papers

NM_000276.4

p.R493W

c.1477C>T

12 papers

NM_000276.4

p.H524R

c.1571A>G

12 papers

NM_000276.4

p.A861T

c.2581G>A

11 papers

NM_000276.4

p.R500Q

c.1499G>A

11 papers

NM_000276.4

p.F668V

c.2002T>G

10 papers

NM_000276.4

p.R822*

c.2464C>T

9 papers

NM_000276.4

p.G664D

c.1991G>A

9 papers

NM_000276.4

p.P799L

c.2396C>T