Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.D294N

ANKRD36

206 papers

Pfam Domains

Ank_2aa 36–128UCSCAnkyrin repeats (3 copies)
Ank_2aa 132–227UCSCAnkyrin repeats (3 copies)
CCDC144Caa 1495–1853UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 36

HGNC Alias Symbol

UNQ2430

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001354587.1
p.D294N
c.880G>A
Surrounding Variants
1 paper
NM_001354587.1
p.D294E
c.882T>A
1 paper
NM_001354587.1
p.D294E
c.882T>G
1 paper
NM_001354587.1
p.I292R
c.875T>G
1 paper
NM_001354587.1
p.K297N
c.891A>C
1 paper
NM_001354587.1
p.K297N
c.891A>T
1 paper
NM_001354587.1
p.S286*
c.857C>A
1 paper
NM_001354587.1
p.S286*
c.857C>G
2 papers
NM_001354587.1
p.I285V
c.853A>G
1 paper
NM_001354587.1
p.E282D
c.846A>C
1 paper
NM_001354587.1
p.E282D
c.846A>T
3 papers
NM_001354587.1
p.E282K
c.844G>A
1 paper
NM_001354587.1
p.G280D
c.839G>A
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