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

3 papers

NM_001037335.2

p.V1487M

c.4459G>A

Surrounding Variants

1 paper

NM_001037335.2

p.R1497H

c.4490G>A

1 paper

NM_001037335.2

p.L1501L

c.4503G>A

2 papers

NM_001037335.2

p.P1447L

c.4340C>T

1 paper

NM_001037335.2

p.T1546M

c.4637C>T

1 paper

NM_001037335.2

p.T1548M

c.4643C>T

1 paper

NM_001037335.2

p.D1423Y

c.4267G>T

1 paper

NM_001037335.2

p.R1559H

c.4676G>A

1 paper

NM_001037335.2

p.H1570R

c.4709A>G

1 paper

NM_001037335.2

p.V1574M

c.4720G>A

1 paper

NM_001037335.2

p.G1383R

c.4147G>C

1 paper

NM_001037335.2

p.G1383R

c.4147G>A

2 papers

NM_001037335.2

p.R1381K

c.4142G>A