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.D237A

c.710A>C

Surrounding Variants

1 paper

NM_001195248.2

p.G240R

c.718G>A

1 paper

NM_001195248.2

p.K233delFs

c.698delT

2 papers

NM_001195248.2

p.E232fs

c.694_695fs

9 papers

NM_001195248.2

p.S242N

c.725G>A

7 papers

NM_001195248.2

p.G231E

c.692G>A

24 papers

NM_001195248.2

p.V230insFs

c.689_690insT

3 papers

NM_001195248.2

p.V230fs

c.688_689fs

9 papers

NM_001195248.2

p.V230G

c.689T>G

1 paper

NM_001195248.2

p.L244R

c.731T>G

1 paper

NM_001195248.2

p.R245H

c.734G>A

2 papers

NM_001195248.2

p.H228R

c.683A>G

1 paper

NM_001195248.2

p.H228N

c.682C>A