Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.I838K

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.I838K
c.2513T>A
Surrounding Variants
1 paper
NM_001354587.1
p.T839N
c.2516C>A
1 paper
NM_001354587.1
p.T839T
c.2517C>A
1 paper
NM_001354587.1
p.S836L
c.2507C>T
1 paper
NM_001354587.1
p.R840K
c.2519G>A
1 paper
NM_001354587.1
p.G841R
c.2521G>A
1 paper
NM_001354587.1
p.G841R
c.2521G>C
1 paper
NM_001354587.1
p.G841E
c.2522G>A
1 paper
NM_001354587.1
p.K843R
c.2528A>G
1 paper
NM_001354587.1
p.K832R
c.2495A>G
1 paper
NM_001354587.1
p.K826_A827Splc
c.2479-1G>A
1 paper
NM_001354587.1
p.K826_A827Splc
c.2479-2A>C
1 paper
NM_001354587.1
p.K826R
c.2477A>G
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