Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.A255V

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
1 paper
NM_001145442.1
p.A255V
c.764C>T
Surrounding Variants
2 papers
NM_001145442.1
p.D251G
c.752A>G
1 paper
NM_001145442.1
p.E250K
c.748G>A
1 paper
NM_001145442.1
p.Y248*
c.744C>G
1 paper
NM_001145442.1
p.G262G
c.786T>C
1 paper
NM_001145442.1
p.A263V
c.788C>T
1 paper
NM_001145442.1
p.L243I
c.727C>A
1 paper
NM_001145442.1
p.A242T
c.724G>A
1 paper
NM_001145442.1
p.N269D
c.805A>G
1 paper
NM_001145442.1
p.T241S
c.721A>T
1 paper
NM_001145442.1
p.G239A
c.716G>C
1 paper
NM_001145442.1
p.G239insFs
c.715dupG
1 paper
NM_001145442.1
p.E237A
c.710A>C
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."