Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.E4D

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.E4D
c.12G>C
Surrounding Variants
1 paper
NM_001145442.1
p.E4A
c.11A>C
1 paper
NM_001145442.1
p.A5P
c.13G>C
1 paper
NM_001145442.1
p.A5_G6insAA
c.13_17ins6
1 paper
NM_001145442.1
p.E4K
c.10G>A
1 paper
NM_001145442.1
p.G6G
c.18T>C
1 paper
NM_001145442.1
p.V2G
c.5T>G
1 paper
NM_001145442.1
p.V2insFs
c.5_6insAA
1 paper
NM_001145442.1
p.V2insFs
c.6dupG
1 paper
NM_001145442.1
p.V2delFs
c.6delG
2 papers
NM_001145442.1
p.S7L
c.20C>T
1 paper
NM_001145442.1
p.V2M
c.4G>A
1 paper
NM_001145442.1
p.M1I
c.3G>A
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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."