Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD18A
Variant:p.R225H

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
2 papers
NM_147195.4
p.R225H
c.674G>A
Surrounding Variants
2 papers
NM_147195.4
p.R201*
c.601A>T
2 papers
NM_147195.4
p.R201*
c.601A>T
1 paper
NM_147195.4
p.E184V
c.551A>T
1 paper
NM_147195.4
p.R265*
c.793C>T
1 paper
NM_147195.4
p.E151G
c.452A>G
4 papers
NM_147195.4
p.E130K
c.388G>A
1 paper
NM_147195.4
p.A125T
c.373G>A
1 paper
NM_147195.4
p.C116S
c.347G>C
1 paper
NM_147195.4
p.C116S
c.346T>A
1 paper
NM_147195.4
p.E284K
c.850G>A
1 paper
NM_147195.4
p.R302G
c.904A>G
1 paper
NM_147195.4
p.Q312R
c.935A>G
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