Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.S384T

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.S384T
c.1150T>A
Surrounding Variants
2 papers
NM_001354587.1
p.R383*
c.1147C>T
2 papers
NM_001354587.1
p.P382L
c.1145C>T
2 papers
NM_001354587.1
p.K386E
c.1156A>G
1 paper
NM_001354587.1
p.S381fs
c.1141_1142fs
7 papers
NM_001354587.1
p.V388G
c.1163T>G
1 paper
NM_001354587.1
p.I379M
c.1137T>G
2 papers
NM_001354587.1
p.K378R
c.1133A>G
4 papers
NM_001354587.1
p.K376E
c.1126A>G
1 paper
NM_001354587.1
p.P375L
c.1124C>T
1 paper
NM_001354587.1
p.I368M
c.1104T>G
5 papers
NM_001354587.1
p.I368T
c.1103T>C
4 papers
NM_001354587.1
p.V388Splc
c.1163-5A>C
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