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.A1043V

c.3128C>T

Surrounding Variants

1 paper

NM_001037335.2

p.A1047A

c.3141G>A

1 paper

NM_001037335.2

p.V1049L

c.3145G>C

1 paper

NM_001037335.2

p.D1060_F1061insFs

c.3180_3181insG

1 paper

NM_001037335.2

p.Q1018H

c.3054G>T

1 paper

NM_001037335.2

p.Q1018H

c.3054G>C

1 paper

NM_001037335.2

p.A1017V

c.3050C>T

1 paper

NM_001037335.2

p.A1073T

c.3217G>A

2 papers

NM_001037335.2

p.G1001R

c.3001G>C

2 papers

NM_001037335.2

p.G1001R

c.3001G>A

1 paper

NM_001037335.2

p.E999D

c.2997G>T

1 paper

NM_001037335.2

p.E999D

c.2997G>C

1 paper

NM_001037335.2

p.A977V

c.2930C>T