Varaico: Literature-Extracted Genetic Variants

Gene:POTEB3

POTEB3

18 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
CCDC144Caa 461–581UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

POTE ankyrin domain family member B3

HGNC Previous Name

POTE ankyrin domain family, member B3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
5 papers
NM_207355.5
p.K511E
c.1531A>G
1 paper
NM_207355.5
p.A13V
c.38C>T
1 paper
NM_207355.5
p.R31C
c.91C>T
1 paper
NM_207355.5
p.D19_R31delFs
c.56_93del38
1 paper
NM_207355.5
p.C35R
c.103T>C
1 paper
NM_207355.5
p.R36M
c.107G>T
1 paper
NM_207355.5
p.M43V
c.127A>G
1 paper
NM_207355.5
p.G44R
c.130G>C
1 paper
NM_207355.5
p.N79H
c.235A>C
1 paper
NM_207355.5
p.K97M
c.290A>T
1 paper
NM_207355.5
p.A127G
c.380C>G
1 paper
NM_207355.5
p.Q286E
c.856C>G
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