Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.T241S

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.T241S
c.721A>T
Surrounding Variants
1 paper
NM_001145442.1
p.A242T
c.724G>A
1 paper
NM_001145442.1
p.G239A
c.716G>C
1 paper
NM_001145442.1
p.L243I
c.727C>A
1 paper
NM_001145442.1
p.G239insFs
c.715dupG
1 paper
NM_001145442.1
p.E237A
c.710A>C
1 paper
NM_001145442.1
p.E237G
c.710A>G
1 paper
NM_001145442.1
p.I234V
c.700A>G
1 paper
NM_001145442.1
p.N233S
c.698A>G
1 paper
NM_001145442.1
p.Y248*
c.744C>G
1 paper
NM_001145442.1
p.N233D
c.697A>G
1 paper
NM_001145442.1
p.P232P
c.696G>A
1 paper
NM_001145442.1
p.E250K
c.748G>A
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