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.K214fs

c.640_641fs

Surrounding Variants

1 paper

NM_001195248.2

p.L213delFs

c.638delA

1 paper

NM_001195248.2

p.K214M

c.641A>T

1 paper

NM_001195248.2

p.S211A

c.631T>G

1 paper

NM_001195248.2

p.W207*

c.620G>A

1 paper

NM_001195248.2

p.H220Q

c.660C>G

1 paper

NM_001195248.2

p.H220Q

c.660C>A

41 papers

NM_001195248.2

p.P206L

c.617C>T

9 papers

NM_001195248.2

p.L223P

c.668T>C

1 paper

NM_001195248.2

p.K225K

c.675G>A

11 papers

NM_001195248.2

p.H201Q

c.603T>G

12 papers

NM_001195248.2

p.H201Q

c.603T>A

15 papers

NM_001195248.2

p.H201R

c.602A>G