Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.K23delFs

POTEM

341 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 301–368UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

POTE ankyrin domain family member M

HGNC Alias Symbols

POTE14beta; P704P; ACT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001145442.1
p.K23delFs
c.68_69delAG
Surrounding Variants
1 paper
NM_001145442.1
p.M24K
c.71T>A
1 paper
NM_001145442.1
p.R21insFs
c.63dupA
1 paper
NM_001145442.1
p.L20R
c.59T>G
1 paper
NM_001145442.1
p.G19V
c.56G>T
1 paper
NM_001145442.1
p.G19S
c.55G>A
1 paper
NM_001145442.1
p.G19C
c.55G>T
1 paper
NM_001145442.1
p.W27C
c.81G>C
1 paper
NM_001145442.1
p.W27C
c.81G>T
1 paper
NM_001145442.1
p.K15K
c.45G>A
1 paper
NM_001145442.1
p.K15M
c.44A>T
1 paper
NM_001145442.1
p.H30Q
c.90C>A
1 paper
NM_001145442.1
p.H30Q
c.90C>G
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."