Varaico: Literature-Extracted Genetic Variants

Gene:APLF
Variant:p.K183E

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.K183E
c.547A>G
Surrounding Variants
1 paper
NM_173545.3
p.R184T
c.551G>C
1 paper
NM_173545.3
p.E181K
c.541G>A
2 papers
NM_173545.3
p.W189G
c.565T>G
1 paper
NM_173545.3
p.N173S
c.518A>G
1 paper
NM_173545.3
p.S201A
c.601T>G
1 paper
NM_173545.3
p.S144S
c.432A>T
1 paper
NM_173545.3
p.S144A
c.430T>G
2 papers
NM_173545.3
p.V133M
c.397G>A
1 paper
NM_173545.3
p.P129_V133del0
c.387_398del12
3 papers
NM_173545.3
p.P129T
c.385C>A
1 paper
NM_173545.3
p.T128A
c.382A>G
1 paper
NM_173545.3
p.N123S
c.368A>G
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