Varaico: Literature-Extracted Genetic Variants

Gene:APLF
Variant:p.A17delFs

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.A17delFs
c.49_50delGC
Surrounding Variants
1 paper
NM_173545.3
p.A17fs
c.49_50fs
1 paper
NM_173545.3
p.V16A
c.47T>C
1 paper
NM_173545.3
p.L18Q
c.53T>A
1 paper
NM_173545.3
p.A19insFs
c.55_56insGC
1 paper
NM_173545.3
p.A19fs
c.55_56fs
1 paper
NM_173545.3
p.G21R
c.61G>A
1 paper
NM_173545.3
p.G21R
c.61G>C
1 paper
NM_173545.3
p.D11A
c.32A>C
1 paper
NM_173545.3
p.R10W
c.28C>T
1 paper
NM_173545.3
p.V24A
c.71T>C
1 paper
NM_173545.3
p.Q8K
c.22C>A
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