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.R2279R

c.6837G>A

Surrounding Variants

1 paper

NM_001037335.2

p.R2286W

c.6856C>T

3 papers

NM_001037335.2

p.P2274L

c.6821C>T

1 paper

NM_001037335.2

p.P2257P

c.6771G>A

1 paper

NM_001037335.2

p.R2243C

c.6727C>T

1 paper

NM_001037335.2

p.A2345_A2347delFs

c.7035_7041del7

1 paper

NM_001037335.2

p.E2361A

c.7082A>C

1 paper

NM_001037335.2

p.R2206fs

c.6616_6617fs

1 paper

NM_001037335.2

p.R2206insFs

c.6616_6617insC

1 paper

NM_001037335.2

p.G2203fs

c.6607_6608fs

1 paper

NM_001037335.2

p.E2197*

c.6589G>T

4 papers

NM_001037335.2

p.T2170M

c.6509C>T

1 paper

NM_001037335.2

p.V2161fs

c.6481_6482fs