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

1–12 of 216 variants

4 papers

NM_001037335.2

p.S338L

c.1013C>T

4 papers

NM_001037335.2

p.T2170M

c.6509C>T

4 papers

NM_001037335.2

p.T2566A

c.7696A>G

3 papers

NM_001037335.2

p.R227C

c.679C>T

3 papers

NM_001037335.2

p.D1354N

c.4060G>A

3 papers

NM_001037335.2

p.V1487M

c.4459G>A

3 papers

NM_001037335.2

p.P2274L

c.6821C>T

2 papers

NM_001037335.2

p.E56K

c.166G>A

2 papers

NM_001037335.2

p.R276H

c.827G>A

2 papers

NM_001037335.2

p.A284V

c.851C>T

2 papers

NM_001037335.2

p.E432K

c.1294G>A

2 papers

NM_001037335.2

p.I666N

c.1997T>A