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.A54G

c.161C>G

Surrounding Variants

2 papers

NM_001037335.2

p.E56K

c.166G>A

1 paper

NM_001037335.2

p.E56D

c.168G>T

1 paper

NM_001037335.2

p.E56D

c.168G>C

1 paper

NM_001037335.2

p.A60T

c.178G>A

1 paper

NM_001037335.2

p.T48P

c.142A>C

1 paper

NM_001037335.2

p.P43P

c.129G>A

1 paper

NM_001037335.2

p.E77K

c.229G>A

1 paper

NM_001037335.2

p.R28C

c.82C>T

1 paper

NM_001037335.2

p.P81Q

c.242C>A

1 paper

NM_001037335.2

p.D26N

c.76G>A

1 paper

NM_001037335.2

p.E5Q

c.13G>C

1 paper

NM_001037335.2

p.A128V

c.383C>T