Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C
Variant:p.D482E

ANKRD36C

129 papers

Pfam Domains

Ank_2aa 36–128UCSCAnkyrin repeats (3 copies)
Ank_2aa 123–194UCSCAnkyrin repeats (3 copies)
CCDC144Caa 1699–2057UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 36C

HGNC Alias Symbol

DKFZp667P0924

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001393982.1
p.D482E
c.1446C>G
Surrounding Variants
3 papers
NM_001393982.1
p.D482E
c.1446C>A
2 papers
NM_001393982.1
p.E485K
c.1453G>A
3 papers
NM_001393982.1
p.N486Y
c.1456A>T
5 papers
NM_001393982.1
p.L489F
c.1467G>T
1 paper
NM_001393982.1
p.L489insFs
c.1466dupT
5 papers
NM_001393982.1
p.L489F
c.1467G>C
3 papers
NM_001393982.1
p.F490insFs
c.1470dupT
1 paper
NM_001393982.1
p.E491fs
c.1471_1472fs
1 paper
NM_001393982.1
p.E491fs
c.1471_1472fs
1 paper
NM_001393982.1
p.N494S
c.1481A>G
1 paper
NM_001393982.1
p.Q469*
c.1405C>T
1 paper
NM_001393982.1
p.T462T
c.1386A>G
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