Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD13A
Variant:p.G312C

ANKRD13A

41 papers

Pfam Domains

Ank_2aa 13–104UCSCAnkyrin repeats (3 copies)
ANKRD13_Caa 156–470UCSCANKRD13 C-terminal

Gene Aliases

HGNC Name

ankyrin repeat domain 13A

HGNC Previous Symbol

ANKRD13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033121.2
p.G312C
c.934G>T
Surrounding Variants
1 paper
NM_033121.2
p.P299L
c.896C>T
1 paper
NM_033121.2
p.T319T
c.957G>A
1 paper
NM_033121.2
p.E334K
c.1000G>A
1 paper
NM_033121.2
p.K359Splc
c.1076+95A>G
1 paper
NM_033121.2
p.R422W
c.1264C>T
1 paper
NM_033121.2
p.G430G
c.1290C>T
1 paper
NM_033121.2
p.E265K
c.793G>A
1 paper
NM_033121.2
p.Y264C
c.791A>G
1 paper
NM_033121.2
p.T246T
c.738T>G
1 paper
NM_033121.2
p.N455D
c.1363A>G
1 paper
NM_033121.2
p.N233K
c.699C>A
1 paper
NM_033121.2
p.N233K
c.699C>G
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