Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD13B

ANKRD13B

36 papers

Pfam Domains

Ank_2aa 18–110UCSCAnkyrin repeats (3 copies)
ANKRD13_Caa 163–490UCSCANKRD13 C-terminal

Gene Aliases

HGNC Name

ankyrin repeat domain 13B

HGNC Alias Symbol

FLJ25555

Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
2 papers
NM_152345.5
p.E453K
c.1357G>A
1 paper
NM_152345.5
p.I2I
c.6C>T
1 paper
NM_152345.5
p.G48V
c.143G>T
1 paper
NM_152345.5
p.R49W
c.145C>T
1 paper
NM_152345.5
p.L61L
c.183T>C
1 paper
NM_152345.5
p.A69V
c.206C>T
1 paper
NM_152345.5
p.A69A
c.207G>A
1 paper
NM_152345.5
p.V74M
c.220G>A
1 paper
NM_152345.5
p.E77*
c.229G>T
1 paper
NM_152345.5
p.T83K
c.248C>A
1 paper
NM_152345.5
p.R108Q
c.323G>A
1 paper
NM_152345.5
p.S139I
c.416G>T
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