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.A1697V

c.5090C>T

Surrounding Variants

2 papers

NM_001037335.2

p.A1690V

c.5069C>T

1 paper

NM_033405.3

p.R1116W

c.3346C>T

1 paper

NM_001037335.2

p.R1676L

c.5027G>T

2 papers

NM_001037335.2

p.P1674S

c.5020C>T

1 paper

NM_001037335.2

p.S1673L

c.5018C>T

1 paper

NM_001037335.2

p.R1722Q

c.5165G>A

2 papers

NM_001037335.2

p.R1652Q

c.4955G>A

2 papers

NM_001037335.2

p.G1742fs

c.5224_5225fs

2 papers

NM_001037335.2

p.G1742delFs

c.5225delC

1 paper

NM_001037335.2

p.A1651T

c.4951G>A

1 paper

NM_001037335.2

p.V1747E

c.5240T>A

1 paper

NM_001037335.2

p.P1633L

c.4898C>T