Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.R922Q

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.R922Q
c.2765G>A
Surrounding Variants
1 paper
NM_001354587.1
p.E928*
c.2782G>T
1 paper
NM_001354587.1
p.A929A
c.2787C>T
1 paper
NM_001354587.1
p.E943fs
c.2827_2828fs
1 paper
NM_001354587.1
p.V953L
c.2857G>C
1 paper
NM_001354587.1
p.V953L
c.2857G>T
5 papers
NM_001354587.1
p.D912Y
c.2734G>T
1 paper
NM_001354587.1
p.D901N
c.2701G>A
2 papers
NM_001354587.1
p.A898A
c.2694C>T
6 papers
NM_001354587.1
p.A898D
c.2693C>A
1 paper
NM_001354587.1
p.A898delins
c.2693_2694delinsAT
1 paper
NM_001354587.1
p.S896T
c.2686T>A
1 paper
NM_001354587.1
p.A895V
c.2684C>T
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