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

1 paper

NM_000276.4

p.S786fs

c.2356_2357fs

Surrounding Variants

1 paper

NM_000276.4

p.V787delFs

c.2360_2361delTG

1 paper

NM_000276.4

p.S786delFs

c.2357_2358delCT

1 paper

NM_000276.4

p.V787insFs

c.2360_2361ins4

1 paper

NM_000276.4

p.V787insFs

c.2360_2361insC

1 paper

NM_001587.4

p.A780P

c.2338G>C

1 paper

NM_000276.4

p.A788D

c.2363C>A

4 papers

NM_000276.4

p.E789_A790insFs

c.2367_2368insA

3 papers

NM_000276.4

p.A790delFs

c.2368delG

1 paper

NM_000276.4

p.A790fs

c.2368_2369fs

2 papers

NM_000276.4

p.A790A

c.2370A>C

1 paper

NM_000276.4

p.F794insFs

c.2380_2381insA

5 papers

NM_000276.4

p.A797P

c.2389G>C