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.V190G

c.569T>G

Surrounding Variants

2 papers

NM_001195248.2

p.Q187*

c.559C>T

4 papers

NM_001195248.2

p.D185E

c.555T>G

4 papers

NM_001195248.2

p.D185E

c.555T>A

1 paper

NM_001195248.2

p.K194delFs

c.582delT

1 paper

NM_001195248.2

p.Y195F

c.584A>T

19 papers

NM_001195248.2

p.K197Q

c.589A>C

19 papers

NM_001195248.2

p.A198V

c.593C>T

2 papers

NM_001195248.2

p.Q181_V182Splc

c.544-1G>C

1 paper

NM_001195248.2

p.R199C

c.595C>T

13 papers

NM_001195248.2

p.R199H

c.596G>A

1 paper

NM_001195248.2

p.R199delFs

c.596delC

1 paper

NM_001195248.2

p.Y200N

c.598T>A