Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.W621R

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
2 papers
NM_001354587.1
p.W621R
c.1861T>C
Surrounding Variants
2 papers
NM_001354587.1
p.W621R
c.1861T>A
1 paper
NM_001354587.1
p.M639T
c.1916T>C
1 paper
NM_001354587.1
p.G640G
c.1920T>C
1 paper
NM_001354587.1
p.G645delFs
c.1934delG
1 paper
NM_001354587.1
p.G645fs
c.1933_1934fs
1 paper
NM_001354587.1
p.T646A
c.1936A>G
1 paper
NM_001354587.1
p.S598L
c.1793C>T
1 paper
NM_001354587.1
p.K594T
c.1781A>C
2 papers
NM_001354587.1
p.E593D
c.1779G>C
2 papers
NM_001354587.1
p.E593D
c.1779G>T
1 paper
NM_001354587.1
p.Q650E
c.1948C>G
1 paper
NM_001354587.1
p.Q652Q
c.1956A>G
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