Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_001145442.1
p.M1K
c.2T>A
1 paper
NM_001145442.1
p.M1insFs
c.3dupG
1 paper
NM_001145442.1
p.M1insFs
c.2dupT
1 paper
NM_001145442.1
p.M1V
c.1A>G
1 paper
NM_001145442.1
p.M1delFs
c.2delT
1 paper
NM_001145442.1
p.M1I
c.3G>A
1 paper
NM_001145442.1
p.V2M
c.4G>A
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
1 paper
NM_001145442.1
p.E4K
c.10G>A
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