Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD18A
Variant:p.E699D

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.E699D
c.2097A>C
Surrounding Variants
1 paper
NM_147195.4
p.E699D
c.2097A>T
1 paper
NM_147195.4
p.A690V
c.2069C>T
2 papers
NM_147195.4
p.Y688C
c.2063A>G
1 paper
NM_147195.4
p.L746L
c.2236C>T
1 paper
NM_147195.4
p.E654K
c.1960G>A
1 paper
NM_147195.4
p.Q625E
c.1873C>G
1 paper
NM_147195.4
p.E618_V619Splc
c.1855-1G>A
1 paper
NM_147195.4
p.E582A
c.1745A>C
1 paper
NM_147195.4
p.A503V
c.1508C>T
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.R491H
c.1472G>A
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