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

2 papers

NM_001037335.2

p.R2102C

c.6304C>T

Surrounding Variants

1 paper

NM_001037335.2

p.A2121T

c.6361G>A

1 paper

NM_001037335.2

p.P2095S

c.6283C>T

1 paper

NM_001037335.2

p.E2080fs

c.6238_6239fs

1 paper

NM_001037335.2

p.V2161fs

c.6481_6482fs

1 paper

NM_001037335.2

p.R2056G

c.6166C>G

4 papers

NM_001037335.2

p.T2170M

c.6509C>T

1 paper

NM_001037335.2

p.T2039T

c.6117G>A

1 paper

NM_001037335.2

p.P2037T

c.6109C>A

1 paper

NM_001037335.2

p.L2033V

c.6097C>G

1 paper

NM_001037335.2

p.S2028T

c.6083G>C

1 paper

NM_001037335.2

p.P2016L

c.6047C>T

2 papers

NM_001037335.2

p.N1997D

c.5989A>G