Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C
Variant:p.E393*

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
5 papers
NM_001393982.1
p.E393*
c.1177G>T
Surrounding Variants
1 paper
NM_001393982.1
p.F396insFs
c.1187_1188dupTT
2 papers
NM_001393982.1
p.A386T
c.1156G>A
3 papers
NM_001393982.1
p.D385G
c.1154A>G
2 papers
NM_001393982.1
p.E401A
c.1202A>C
3 papers
NM_001393982.1
p.I402T
c.1205T>C
1 paper
NM_001393982.1
p.I408F
c.1222A>T
1 paper
NM_001393982.1
p.I408V
c.1222A>G
5 papers
NM_001393982.1
p.K410E
c.1228A>G
6 papers
NM_001393982.1
p.K412R
c.1235A>G
6 papers
NM_001393982.1
p.P416L
c.1247C>T
7 papers
NM_001393982.1
p.R417*
c.1249C>T
1 paper
NM_001393982.1
p.S418S
c.1254T>G
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