Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.R306Splc

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.R306Splc
c.918-1G>C
Surrounding Variants
2 papers
NM_001145442.1
p.V308A
c.923T>C
1 paper
NM_001145442.1
p.I310delFs
c.928_929delAT
1 paper
NM_001145442.1
p.V321I
c.961G>A
1 paper
NM_001145442.1
p.L324L
c.972A>G
1 paper
NM_001145442.1
p.D335_L336del2
c.1003_1007del6
1 paper
NM_001145442.1
p.G338R
c.1012G>A
2 papers
NM_001145442.1
p.E343G
c.1028A>G
1 paper
NM_001145442.1
p.R349H
c.1046G>A
1 paper
NM_001145442.1
p.R306Splc
c.917+13C>A
1 paper
NM_001145442.1
p.D302V
c.905A>T
1 paper
NM_001145442.1
p.L301P
c.902T>C
1 paper
NM_001145442.1
p.Q285delFs
c.854delA
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