Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C
Variant:p.N1279_I1280delFs

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.N1279_I1280delFs
c.3835_3838del4
Surrounding Variants
1 paper
NM_001393982.1
p.K1285_H1286del2
c.3853_3857del6
1 paper
NM_001393982.1
p.T1304S
c.3910A>T
1 paper
NM_001393982.1
p.D1320N
c.3958G>A
1 paper
NM_001393982.1
p.V1413A
c.4238T>C
1 paper
NM_001393982.1
p.E1424D
c.4272A>C
1 paper
NM_001393982.1
p.G1117R
c.3349G>A
1 paper
NM_001393982.1
p.L1447F
c.4339C>T
1 paper
NM_001393982.1
p.F1107L
c.3319T>C
5 papers
NM_001393982.1
p.F1107I
c.3319T>A
1 paper
NM_001310154.3
p.G1482S
c.4444G>A
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