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.R848G

c.2542A>G

Surrounding Variants

1 paper

NM_001037335.2

p.R865W

c.2593C>T

1 paper

NM_001037335.2

p.T877N

c.2630C>A

1 paper

NM_001037335.2

p.R896H

c.2687G>A

1 paper

NM_001037335.2

p.R896R

c.2688C>T

1 paper

NM_001037335.2

p.R938Q

c.2813G>A

1 paper

NM_001037335.2

p.M948V

c.2842A>G

1 paper

NM_001037335.2

p.E826Q

c.2476G>C

1 paper

NM_001037335.2

p.W822*

c.2466G>A

1 paper

NM_001037335.2

p.W822*

c.2465G>A

1 paper

NM_001037335.2

p.Q957*

c.2869C>T

1 paper

NM_001037335.2

p.R964Q

c.2891G>A

1 paper

NM_001037335.2

p.A977V

c.2930C>T