Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C

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
1–12 of 200 variants
7 papers
NM_001393982.1
p.R417*
c.1249C>T
7 papers
NM_001393982.1
p.E640G
c.1919A>G
6 papers
NM_001393982.1
p.K412R
c.1235A>G
6 papers
NM_001393982.1
p.P416L
c.1247C>T
6 papers
NM_001393982.1
p.V422G
c.1265T>G
5 papers
NM_001393982.1
p.E393*
c.1177G>T
5 papers
NM_001393982.1
p.K410E
c.1228A>G
5 papers
NM_001393982.1
p.L489F
c.1467G>T
5 papers
NM_001393982.1
p.L489F
c.1467G>C
5 papers
NM_001393982.1
p.F1107I
c.3319T>A
4 papers
NM_001393982.1
p.N455T
c.1364A>C
4 papers
NM_001393982.1
p.G499R
c.1495G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."