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

15 papers

NM_001195248.2

p.W279R

c.835T>A

Surrounding Variants

15 papers

NM_001195248.2

p.W279R

c.835T>C

56 papers

NM_001195248.2

p.W279*

c.836G>A

58 papers

NM_001195248.2

p.W279*

c.837G>A

3 papers

NM_001195248.2

p.N280fs

c.838_839fs

11 papers

NM_001195248.2

p.N280delFs

c.840delA

1 paper

NM_001195248.2

p.S281fs

c.841_842fs

1 paper

NM_001195248.2

p.N283D

c.847A>G

1 paper

NM_001195248.2

p.E285K

c.853G>A

1 paper

NM_001195248.2

p.C272F

c.815G>T

1 paper

NM_001195248.2

p.C272Y

c.815G>A

1 paper

NM_001195248.2

p.P271S

c.811C>T

2 papers

NM_001195248.2

p.S270F

c.809C>T