Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.E393G

ANKRD36

206 papers

Pfam Domains

Ank_2aa 36–128UCSCAnkyrin repeats (3 copies)
Ank_2aa 132–227UCSCAnkyrin repeats (3 copies)
CCDC144Caa 1495–1853UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

ankyrin repeat domain 36

HGNC Alias Symbol

UNQ2430

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001354587.1
p.E393G
c.1178A>G
Surrounding Variants
1 paper
NM_001354587.1
p.V392F
c.1174G>T
7 papers
NM_001354587.1
p.A395delFs
c.1183_1184delGC
2 papers
NM_001354587.1
p.A395fs
c.1183_1184fs
7 papers
NM_001354587.1
p.A395S
c.1183G>T
4 papers
NM_001354587.1
p.A395fs
c.1183_1184fs
6 papers
NM_001354587.1
p.A395G
c.1184C>G
1 paper
NM_001354587.1
p.P391A
c.1171C>G
2 papers
NM_001354587.1
p.V396fs
c.1186_1187fs
9 papers
NM_001354587.1
p.V396insFs
c.1187_1188dupTT
6 papers
NM_001354587.1
p.V396F
c.1186G>T
2 papers
NM_001354587.1
p.D397fs
c.1189_1190fs
4 papers
NM_001354587.1
p.D397fs
c.1189_1190fs
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