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

11 papers

NM_000276.4

p.F668V

c.2002T>G

Surrounding Variants

9 papers

NM_000276.4

p.G664D

c.1991G>A

4 papers

NM_000276.4

p.R663*

c.1987C>T

1 paper

NM_000276.4

p.L661fs

c.1981_1982fs

1 paper

NM_000276.4

p.L661L

c.1981C>T

1 paper

NM_000276.4

p.H660P

c.1979A>C

1 paper

NM_000276.4

p.H660_L661delFs

c.1980_1981delCC

1 paper

NM_000276.4

p.H660Y

c.1978C>T

1 paper

NM_000276.4

p.L659delFs

c.1975delC

1 paper

NM_000276.4

p.S678G

c.2032A>G

1 paper

NM_000276.4

p.L657R

c.1970T>G

1 paper

NM_000276.4

p.C679R

c.2035T>C

3 papers

NM_000276.4

p.C679W

c.2037T>G