Varaico: Literature-Extracted Genetic Variants

Gene:APLF
Variant:p.M284I

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.M284I
c.852G>T
Surrounding Variants
1 paper
NM_173545.3
p.M284I
c.852G>A
1 paper
NM_173545.3
p.M284I
c.852G>C
1 paper
NM_173545.3
p.A291T
c.871G>A
1 paper
NM_173545.3
p.A276A
c.828A>G
2 papers
NM_173545.3
p.K312_R313del1
c.936_938delAAG
2 papers
NM_173545.3
p.L336F
c.1006C>T
1 paper
NM_173545.3
p.A361T
c.1081G>A
1 paper
NM_173545.3
p.Q367*
c.1099C>T
1 paper
NM_173545.3
p.Y381C
c.1142A>G
1 paper
NM_173545.3
p.G382W
c.1144G>T
1 paper
NM_173545.3
p.R387_H398del0
c.1161_1193del33
1 paper
NM_173545.3
p.V410M
c.1228G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."