Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.A127T

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.A127T
c.379G>A
Surrounding Variants
1 paper
NM_001145442.1
p.A127_F128ins1
c.381_382insATC
1 paper
NM_001145442.1
p.S126_A127delFs
c.378_379delCG
1 paper
NM_001145442.1
p.D124N
c.370G>A
1 paper
NM_001145442.1
p.Y123*
c.369C>A
1 paper
NM_001145442.1
p.Y123*
c.369C>G
1 paper
NM_001145442.1
p.Y123Y
c.369C>T
1 paper
NM_001145442.1
p.Y123F
c.368A>T
1 paper
NM_001145442.1
p.P131S
c.391C>T
1 paper
NM_001145442.1
p.D122E
c.366C>G
1 paper
NM_001145442.1
p.R132G
c.394A>G
1 paper
NM_001145442.1
p.R132M
c.395G>T
1 paper
NM_001145442.1
p.R132S
c.396G>C
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