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.P609L

c.1826C>T

Surrounding Variants

1 paper

NM_001037335.2

p.D614N

c.1840G>A

1 paper

NM_001037335.2

p.V603M

c.1807G>A

1 paper

NM_001037335.2

p.S592_G593del1

c.1776_1778delCCG

1 paper

NM_001037335.2

p.R584W

c.1750C>T

1 paper

NM_001037335.2

p.R642C

c.1924C>T

1 paper

NM_001037335.2

p.E653G

c.1958A>G

2 papers

NM_001037335.2

p.I666N

c.1997T>A

1 paper

NM_001037335.2

p.E668A

c.2003A>C

1 paper

NM_001037335.2

p.A684P

c.2050G>C

1 paper

NM_001037335.2

p.M697delFs

c.2090delA

1 paper

NM_001037335.2

p.T715M

c.2144C>T

1 paper

NM_001037335.2

p.E741K

c.2221G>A