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.K568K

c.1704G>A

Surrounding Variants

1 paper

NM_001037335.2

p.P565L

c.1694C>T

1 paper

NM_001037335.2

p.S577Splc

c.1730+6C>T

1 paper

NM_001037335.2

p.Y552H

c.1654T>C

1 paper

NM_001037335.2

p.T551S

c.1651A>T

1 paper

NM_001037335.2

p.A527A

c.1581G>A

1 paper

NM_001037335.2

p.R479H

c.1436G>A

1 paper

NM_001037335.2

p.F478S

c.1433T>C

1 paper

NM_001037335.2

p.R434R

c.1302G>C

2 papers

NM_001037335.2

p.E432K

c.1294G>A

1 paper

NM_001037335.2

p.L419L

c.1257G>C

1 paper

NM_001037335.2

p.P387S

c.1159C>T

1 paper

NM_001037335.2

p.A386V

c.1157C>T