Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.R73R

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.R73R
c.219G>A
Surrounding Variants
1 paper
NM_001145442.1
p.R73S
c.219G>C
1 paper
NM_001145442.1
p.R73S
c.219G>T
1 paper
NM_001145442.1
p.R73G
c.217A>G
1 paper
NM_001145442.1
p.G76A
c.227G>C
1 paper
NM_001145442.1
p.K77E
c.229A>G
1 paper
NM_001145442.1
p.S78C
c.232A>T
1 paper
NM_001145442.1
p.C68S
c.202T>A
1 paper
NM_001145442.1
p.C68R
c.202T>C
1 paper
NM_001145442.1
p.H67Q
c.201C>A
1 paper
NM_001145442.1
p.W64*
c.192G>A
1 paper
NM_001145442.1
p.W64_F69delFs
c.192_205del14
1 paper
NM_001145442.1
p.S83S
c.249T>C
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