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_033405.3

p.R715W

c.2143C>T

Surrounding Variants

1 paper

NM_001037335.2

p.E1289Q

c.3865G>C

1 paper

NM_001037335.2

p.E1289K

c.3865G>A

2 papers

NM_001037335.2

p.V1308L

c.3922G>T

2 papers

NM_001037335.2

p.V1308L

c.3922G>C

1 paper

NM_001037335.2

p.E1253Q

c.3757G>C

1 paper

NM_001037335.2

p.R1249H

c.3746G>A

1 paper

NM_001037335.2

p.R1246W

c.3736C>T

1 paper

NM_001037335.2

p.E1230K

c.3688G>A

2 papers

NM_001037335.2

p.D1346N

c.4036G>A

1 paper

NM_001037335.2

p.C1351F

c.4052G>T

3 papers

NM_001037335.2

p.D1354N

c.4060G>A

2 papers

NM_001037335.2

p.D1355N

c.4063G>A