Varaico: Literature-Extracted Genetic Variants

HELZ2

153 papers

RefSeq Summary

The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appea...

Pfam Domains

AAA_11aa 532–629UCSCAAA domain

AAA_11aa 625–706UCSCAAA domain

AAA_12aa 712–916UCSCAAA domain

OB_HELZ2aa 1111–1200UCSC3'-5' exoribonuclease HELZ2, OB-fold domain

RNBaa 1334–1693UCSCRNB domain

AAA_11aa 2152–2399UCSCAAA domain

Gene Aliases

HGNC Name

helicase with zinc finger 2

HGNC Alias Symbols

PDIP1; PRIC285; KIAA1769

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001037335.2

p.R140Q

c.419G>A

Surrounding Variants

1 paper

NM_001037335.2

p.E144insFs

c.432dupG

1 paper

NM_001037335.2

p.Y145fs

c.433_434fs

1 paper

NM_001037335.2

p.G133R

c.397G>C

1 paper

NM_001037335.2

p.G133R

c.397G>A

1 paper

NM_001037335.2

p.Q131*

c.391C>T

1 paper

NM_001037335.2

p.A128V

c.383C>T

1 paper

NM_001037335.2

p.S182T

c.545G>C

1 paper

NM_001037335.2

p.P216L

c.647C>T

1 paper

NM_001037335.2

p.R222W

c.664C>T

1 paper

NM_001037335.2

p.R222Q

c.665G>A

3 papers

NM_001037335.2

p.R227C

c.679C>T

1 paper

NM_001037335.2

p.V228A

c.683T>C