Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD13C
Variant:p.R339C

ANKRD13C

37 papers

Pfam Domains

Ank_2aa 116–206UCSCAnkyrin repeats (3 copies)
ANKRD13_Caa 259–532UCSCANKRD13 C-terminal

Gene Aliases

HGNC Name

ankyrin repeat domain 13C

HGNC Alias Symbols

DKFZP566D1346; dJ677H15.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030816.5
p.R339C
c.1015C>T
Surrounding Variants
1 paper
NM_030816.5
p.S336Y
c.1007C>A
1 paper
NM_030816.5
p.S331L
c.992C>T
1 paper
NM_030816.5
p.L363L
c.1087C>T
1 paper
NM_030816.5
p.V364M
c.1090G>A
1 paper
NM_030816.5
p.R374K
c.1121G>A
1 paper
NM_030816.5
p.R385*
c.1153C>T
1 paper
NM_030816.5
p.S394N
c.1181G>A
1 paper
NM_030816.5
p.E289*
c.865G>T
3 papers
NM_030816.5
p.A285V
c.854C>T
1 paper
NM_030816.5
p.N282S
c.845A>G
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