Varaico: Literature-Extracted Genetic Variants

Gene:POTEM

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
1–12 of 194 variants
10 papers
NM_001145442.1
p.R58T
c.173G>C
2 papers
NM_001145442.1
p.M1T
c.2T>C
2 papers
NM_001145442.1
p.E4D
c.12G>C
2 papers
NM_001145442.1
p.S7L
c.20C>T
2 papers
NM_001145442.1
p.S12F
c.35C>T
2 papers
NM_001145442.1
p.K23delFs
c.68_69delAG
2 papers
NM_001145442.1
p.H134R
c.401A>G
2 papers
NM_001145442.1
p.V135I
c.403G>A
2 papers
NM_001145442.1
p.Q172*
c.514C>T
2 papers
NM_001145442.1
p.R196Q
c.587G>A
2 papers
NM_001145442.1
p.D251G
c.752A>G
2 papers
NM_001145442.1
p.V308A
c.923T>C
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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."