Varaico: Literature-Extracted Genetic Variants

APTX

248 papers

RefSeq Summary

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyp...

Pfam Domains

FHA_2aa 19–89UCSCFHA domain

DcpS_Caa 181–292UCSCScavenger mRNA decapping enzyme C-term binding

zf-C2HEaa 211–270UCSCC2HE / C2H2 / C2HC zinc-binding finger

Gene Aliases

HGNC Name

aprataxin

HGNC Previous Symbol

AXA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001195248.2

p.Y200N

c.598T>A

Surrounding Variants

1 paper

NM_001195248.2

p.R199delFs

c.596delC

13 papers

NM_001195248.2

p.R199H

c.596G>A

1 paper

NM_001195248.2

p.R199C

c.595C>T

15 papers

NM_001195248.2

p.H201R

c.602A>G

1 paper

NM_001195248.2

p.H201P

c.602A>C

11 papers

NM_001195248.2

p.H201Q

c.603T>G

12 papers

NM_001195248.2

p.H201Q

c.603T>A

19 papers

NM_001195248.2

p.A198V

c.593C>T

19 papers

NM_001195248.2

p.K197Q

c.589A>C

1 paper

NM_001195248.2

p.Y195F

c.584A>T

1 paper

NM_001195248.2

p.K194delFs

c.582delT

41 papers

NM_001195248.2

p.P206L

c.617C>T