Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.K63R

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.K63R
c.188A>G
Surrounding Variants
1 paper
NM_001145442.1
p.G62G
c.186C>A
1 paper
NM_001145442.1
p.W64_F69delFs
c.192_205del14
1 paper
NM_001145442.1
p.W64*
c.192G>A
1 paper
NM_001145442.1
p.H67Q
c.201C>A
1 paper
NM_001145442.1
p.C68S
c.202T>A
1 paper
NM_001145442.1
p.C68R
c.202T>C
10 papers
NM_001145442.1
p.R58T
c.173G>C
1 paper
NM_001145442.1
p.R58delFs
c.173delG
1 paper
NM_001145442.1
p.T56I
c.167C>T
1 paper
NM_001145442.1
p.T56insFs
c.167_168insC
1 paper
NM_001145442.1
p.K55T
c.164A>C
1 paper
NM_001145442.1
p.M54T
c.161T>C
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