Varaico: Literature-Extracted Genetic Variants

Gene:POTEB3
Variant:p.Q286E

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
Selected Variant
1 paper
NM_207355.5
p.Q286E
c.856C>G
Surrounding Variants
1 paper
NM_207355.5
p.A318E
c.953C>A
1 paper
NM_207355.5
p.A127G
c.380C>G
1 paper
NM_207355.5
p.K97M
c.290A>T
1 paper
NM_207355.5
p.N79H
c.235A>C
1 paper
NM_207355.5
p.G44R
c.130G>C
1 paper
NM_207355.5
p.M43V
c.127A>G
1 paper
NM_207355.5
p.R36M
c.107G>T
1 paper
NM_207355.5
p.C35R
c.103T>C
1 paper
NM_207355.5
p.D19_R31delFs
c.56_93del38
1 paper
NM_207355.5
p.R31C
c.91C>T
1 paper
NM_207355.5
p.A13V
c.38C>T
1 paper
NM_207355.5
p.E385D
c.1155A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."