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.A1802V

c.5405C>T

Surrounding Variants

2 papers

NM_001037335.2

p.L1821R

c.5462T>G

1 paper

NM_001037335.2

p.L1821Q

c.5462T>A

1 paper

NM_001037335.2

p.L1776_L1778delFs

c.5328_5334del7

1 paper

NM_001037335.2

p.L1776_L1778del3

c.5326_5333del9

1 paper

NM_001037335.2

p.S1775Y

c.5324C>A

1 paper

NM_001037335.2

p.P1772S

c.5314C>T

1 paper

NM_001037335.2

p.V1771I

c.5311G>A

1 paper

NM_001037335.2

p.A1853A

c.5559G>T

1 paper

NM_001037335.2

p.V1747E

c.5240T>A

1 paper

NM_001037335.2

p.Q1861L

c.5582A>T

2 papers

NM_001037335.2

p.G1742fs

c.5224_5225fs

2 papers

NM_001037335.2

p.G1742delFs

c.5225delC