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.H262Q

c.786T>G

Surrounding Variants

1 paper

NM_001195248.2

p.H262Q

c.786T>A

25 papers

NM_001195248.2

p.V263G

c.788T>G

2 papers

NM_001195248.2

p.L261F

c.781C>T

1 paper

NM_001195248.2

p.S265C

c.793A>T

1 paper

NM_001195248.2

p.S265R

c.793A>C

1 paper

NM_001195248.2

p.S265R

c.795C>G

1 paper

NM_001195248.2

p.S265R

c.795C>A

2 papers

NM_001195248.2

p.D267N

c.799G>A

16 papers

NM_001195248.2

p.D267G

c.800A>G

1 paper

NM_001195248.2

p.D269G

c.806A>G

1 paper

NM_001195248.2

p.S257Splc

c.771-5A>G

2 papers

NM_001195248.2

p.S270F

c.809C>T