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.N2595K

c.7785T>G

Surrounding Variants

1 paper

NM_001037335.2

p.N2595K

c.7785T>A

1 paper

NM_001037335.2

p.Q2602E

c.7804C>G

1 paper

NM_001037335.2

p.K2583N

c.7749G>T

1 paper

NM_001037335.2

p.K2583N

c.7749G>C

2 papers

NM_001037335.2

p.G2609Splc

c.7825+8C>T

1 paper

NM_001037335.2

p.R2575W

c.7723C>T

4 papers

NM_001037335.2

p.T2566A

c.7696A>G

1 paper

NM_001037335.2

p.R2537*

c.7609C>T

1 paper

NM_001037335.2

p.R2536Q

c.7607G>A

1 paper

NM_001037335.2

p.R2536W

c.7606C>T

1 paper

NM_001037335.2

p.L2494V

c.7480C>G

1 paper

NM_001037335.2

p.E2485K

c.7453G>A