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

4 papers

NM_000276.4

p.A861P

c.2581G>C

Surrounding Variants

12 papers

NM_000276.4

p.A861T

c.2581G>A

2 papers

NM_000276.4

p.A861Splc

c.2581+1G>A

2 papers

NM_000276.4

p.A861Splc

c.2581+1G>C

2 papers

NM_000276.4

p.A861Splc

c.2581+4A>G

1 paper

NM_000276.4

p.A857V

c.2570C>T

1 paper

NM_000276.4

p.A857fs

c.2569_2570fs

1 paper

NM_000276.4

p.N856insFs

c.2568dupT

1 paper

NM_000276.4

p.V855_N856delFs

c.2564_2567del4

1 paper

NM_000276.4

p.E851insFs

c.2551_2552insT

1 paper

NM_000276.4

p.E851*

c.2551G>T

1 paper

NM_000276.4

p.S850F

c.2549C>T

1 paper

NM_000276.4

p.E845*

c.2533G>T