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

9 papers

NM_000276.4

p.P799L

c.2396C>T

Surrounding Variants

3 papers

NM_000276.4

p.P801L

c.2402C>T

5 papers

NM_000276.4

p.A797P

c.2389G>C

1 paper

NM_000276.4

p.I803_C804delFs

c.2409_2410delCT

1 paper

NM_000276.4

p.F794insFs

c.2380_2381insA

1 paper

NM_000276.4

p.Y805insFs

c.2414dupA

1 paper

NM_000276.4

p.Y805*

c.2415C>A

2 papers

NM_000276.4

p.Y805*

c.2415C>G

3 papers

NM_000276.4

p.E806*

c.2416G>T

3 papers

NM_000276.4

p.E806D

c.2418G>C

3 papers

NM_000276.4

p.E806D

c.2418G>T

2 papers

NM_000276.4

p.A790A

c.2370A>C

1 paper

NM_000276.4

p.A790fs

c.2368_2369fs