Varaico: Literature-Extracted Genetic Variants

Gene:POTEB
Variant:p.S78delFs

POTEB

21 papers

Pfam Domains

Ank_2aa 106–199UCSCAnkyrin repeats (3 copies)
Ank_2aa 106–199UCSCAnkyrin repeats (3 copies)
Ank_2aa 206–298UCSCAnkyrin repeats (3 copies)
Ank_2aa 206–298UCSCAnkyrin repeats (3 copies)
Ank_2aa 268–331UCSCAnkyrin repeats (3 copies)
Ank_2aa 268–331UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

POTE ankyrin domain family member B

HGNC Previous Symbol

A26B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001277304.2
p.S78delFs
c.232delT
Surrounding Variants
1 paper
NM_001277304.2
p.N79H
c.235A>C
1 paper
NM_001277304.2
p.W64C
c.192G>T
1 paper
NM_001277304.2
p.M54I
c.162G>A
1 paper
NM_001277304.2
p.D51N
c.151G>A
1 paper
NM_001277304.2
p.T40K
c.119C>A
1 paper
NM_001277304.2
p.R31C
c.91C>T
1 paper
NM_001277304.2
p.H29D
c.85C>G
2 papers
NM_001277304.2
p.W27C
c.81G>T
2 papers
NM_001277304.2
p.W27C
c.81G>C
2 papers
NM_001277304.2
p.E213G
c.638A>G
1 paper
NM_001277304.2
p.K233_C234Splc
c.700-1079A>T
1 paper
NM_001277304.2
p.G235G
c.705C>G
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