Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C
Variant:p.Q788*

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.Q788*
c.2362C>T
Surrounding Variants
1 paper
NM_001393982.1
p.A790P
c.2368G>C
1 paper
NM_001393982.1
p.A759V
c.2276C>T
1 paper
NM_001393982.1
p.A756G
c.2267C>G
1 paper
NM_001393982.1
p.G845*
c.2533G>T
1 paper
NM_001393982.1
p.V749Splc
c.2246-378G>T
1 paper
NM_001393982.1
p.Q718R
c.2153A>G
1 paper
NM_001393982.1
p.D864E
c.2592C>A
1 paper
NM_001393982.1
p.E866K
c.2596G>A
2 papers
NM_001393982.1
p.G675S
c.2023G>A
1 paper
NM_001393982.1
p.I668_A669delFs
c.2004_2005delCA
1 paper
NM_001393982.1
p.P924S
c.2770C>T
1 paper
NM_001393982.1
p.P924P
c.2772A>G
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