Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.T211S

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.T211S
c.631A>T
Surrounding Variants
1 paper
NM_001145442.1
p.K212E
c.634A>G
1 paper
NM_001145442.1
p.T208A
c.622A>G
1 paper
NM_001145442.1
p.R207K
c.620G>A
1 paper
NM_001145442.1
p.K206delFs
c.616delA
1 paper
NM_001145442.1
p.I201_L202insFs
c.603_604insG
1 paper
NM_001145442.1
p.I201N
c.602T>A
1 paper
NM_001145442.1
p.I201V
c.601A>G
1 paper
NM_001145442.1
p.N200S
c.599A>G
2 papers
NM_001145442.1
p.R196Q
c.587G>A
1 paper
NM_001145442.1
p.R196*
c.586C>T
1 paper
NM_001145442.1
p.R195delFs
c.585delA
1 paper
NM_001145442.1
p.L192L
c.576G>A
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