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

5 papers

NM_000276.4

p.F242S

c.725T>C

Surrounding Variants

2 papers

NM_000276.4

p.F242insFs

c.724_725insT

3 papers

NM_000276.4

p.R241Splc

c.723-1G>A

4 papers

NM_000276.4

p.F243S

c.728T>C

1 paper

NM_000276.4

p.R241Splc

c.723-2A>C

1 paper

NM_000276.4

p.V244fs

c.730_731fs

1 paper

NM_000276.4

p.V244_G245delFs

c.732_733delTG

2 papers

NM_000276.4

p.G245E

c.734G>A

1 paper

NM_000276.4

p.G245_N248del0

c.735_743del9

1 paper

NM_000276.4

p.W247*

c.740G>A

5 papers

NM_000276.4

p.W247C

c.741G>C

5 papers

NM_000276.4

p.W247C

c.741G>T

1 paper

NM_000276.4

p.V249_N250delFs

c.746_749del4