Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.M54T

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.M54T
c.161T>C
Surrounding Variants
1 paper
NM_001145442.1
p.K55T
c.164A>C
1 paper
NM_001145442.1
p.T56insFs
c.167_168insC
1 paper
NM_001145442.1
p.T56I
c.167C>T
1 paper
NM_001145442.1
p.D51V
c.152A>T
1 paper
NM_001145442.1
p.R58delFs
c.173delG
1 paper
NM_001145442.1
p.D50D
c.150T>C
1 paper
NM_001145442.1
p.D50V
c.149A>T
10 papers
NM_001145442.1
p.R58T
c.173G>C
1 paper
NM_001145442.1
p.D50N
c.148G>A
1 paper
NM_001145442.1
p.D50Y
c.148G>T
1 paper
NM_001145442.1
p.H49L
c.146A>T
1 paper
NM_001145442.1
p.D48V
c.143A>T
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