Varaico: Literature-Extracted Genetic Variants

Gene:APLF
Variant:p.K36fs

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
1 paper
NM_173545.3
p.K36fs
c.106_107fs
Surrounding Variants
2 papers
NM_173545.3
p.K36M
c.107A>T
1 paper
NM_173545.3
p.R37G
c.109A>G
1 paper
NM_173545.3
p.H42Y
c.124C>T
2 papers
NM_173545.3
p.H42L
c.125A>T
1 paper
NM_173545.3
p.G49_G50del2
c.145_149del6
1 paper
NM_173545.3
p.R53*
c.157C>T
1 paper
NM_173545.3
p.I54M
c.162C>G
1 paper
NM_173545.3
p.K55_P56insGC
c.163_167ins6
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