Varaico: Literature-Extracted Genetic Variants

Gene:APLF
Variant:p.Y82C

APLF

93 papers

Pfam Domains

FHA_2aa 7–71UCSCFHA domain
zf-CCHHaa 376–401UCSCPBZ domain
zf-CCHHaa 418–443UCSCPBZ domain

Gene Aliases

HGNC Name

aprataxin and PNKP like factor

HGNC Previous Symbol

C2orf13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_173545.3
p.Y82C
c.245A>G
Surrounding Variants
1 paper
NM_173545.3
p.C81W
c.243C>G
1 paper
NM_173545.3
p.L79L
c.237A>G
1 paper
NM_173545.3
p.Q71L
c.212A>T
5 papers
NM_173545.3
p.I100V
c.298A>G
1 paper
NM_173545.3
p.C62F
c.185G>T
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