Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD18A
Variant:p.D313G

ANKRD18A

54 papers

Pfam Domains

Ank_2aa 38–131UCSCAnkyrin repeats (3 copies)
Ank_2aa 116–197UCSCAnkyrin repeats (3 copies)
Ank_2aa 182–263UCSCAnkyrin repeats (3 copies)
CCDC144Caa 324–730UCSCCCDC144C protein coiled-coil region
DUF3496aa 925–1031UCSCDomain of unknown function (DUF3496)

Gene Aliases

HGNC Name

ankyrin repeat domain 18A

HGNC Alias Symbols

KIAA2015; FLJ35740

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_147195.4
p.D313G
c.938A>G
Surrounding Variants
1 paper
NM_147195.4
p.K320fs
c.958_959fs
1 paper
NM_147195.4
p.K320insFs
c.959_960insA
1 paper
NM_147195.4
p.R454T
c.1361G>C
1 paper
NM_147195.4
p.S460C
c.1379C>G
1 paper
NM_147195.4
p.N484S
c.1451A>G
1 paper
NM_147195.4
p.R491H
c.1472G>A
1 paper
NM_147195.4
p.K500N
c.1500G>T
1 paper
NM_147195.4
p.K500N
c.1500G>C
1 paper
NM_147195.4
p.A503V
c.1508C>T
1 paper
NM_147195.4
p.E582A
c.1745A>C
1 paper
NM_147195.4
p.E618_V619Splc
c.1855-1G>A
1 paper
NM_147195.4
p.Q625E
c.1873C>G
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."