Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C
Variant:p.T520M

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
1 paper
NM_001393982.1
p.T520M
c.1559C>T
Surrounding Variants
1 paper
NM_001393982.1
p.T520_H521Splc
c.1560+5A>G
1 paper
NM_001393982.1
p.P516P
c.1548G>A
3 papers
NM_001393982.1
p.Q515*
c.1543C>T
1 paper
NM_001393982.1
p.V511fs
c.1531_1532fs
2 papers
NM_001393982.1
p.V511Splc
c.1532-4G>T
1 paper
NM_001393982.1
p.V511Splc
c.1532-8C>T
1 paper
NM_001393982.1
p.T522T
c.1566G>T
1 paper
NM_001393982.1
p.D525Y
c.1573G>T
1 paper
NM_001393982.1
p.V511Splc
c.1532-74C>A
4 papers
NM_001393982.1
p.S526R
c.1576A>C
4 papers
NM_001393982.1
p.S526R
c.1578T>G
4 papers
NM_001393982.1
p.S526R
c.1578T>A
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