Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD18A
Variant:p.E799del1

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.E799del1
c.2395_2397delTTC
Surrounding Variants
1 paper
NM_147195.4
p.K796N
c.2388G>T
1 paper
NM_147195.4
p.K796N
c.2388G>C
1 paper
NM_147195.4
p.E792Q
c.2374G>C
1 paper
NM_147195.4
p.L791L
c.2373T>C
1 paper
NM_147195.4
p.E835G
c.2504A>G
1 paper
NM_147195.4
p.L753I
c.2257C>A
1 paper
NM_147195.4
p.K850K
c.2550A>G
1 paper
NM_147195.4
p.S878C
c.2633C>G
1 paper
NM_147195.4
p.A897V
c.2690C>T
1 paper
NM_147195.4
p.G900A
c.2699G>C
1 paper
NM_147195.4
p.K914Splc
c.2742-160G>A
1 paper
NM_147195.4
p.T924fs
c.2770_2771fs
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