Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.L225S

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.L225S
c.674T>C
Surrounding Variants
1 paper
NM_001145442.1
p.L223L
c.669A>G
1 paper
NM_001145442.1
p.E227insFs
c.680dupA
1 paper
NM_001145442.1
p.A222V
c.665C>T
1 paper
NM_001145442.1
p.P232P
c.696G>A
1 paper
NM_001145442.1
p.N233D
c.697A>G
1 paper
NM_001145442.1
p.N233S
c.698A>G
1 paper
NM_001145442.1
p.I234V
c.700A>G
1 paper
NM_001145442.1
p.C216Y
c.647G>A
1 paper
NM_001145442.1
p.Q215del1
c.643_645delCAA
1 paper
NM_001145442.1
p.V214I
c.640G>A
1 paper
NM_001145442.1
p.V214L
c.640G>C
1 paper
NM_001145442.1
p.V214L
c.640G>T
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