Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.C105F

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.C105F
c.314G>T
Surrounding Variants
1 paper
NM_001145442.1
p.C102S
c.305G>C
1 paper
NM_001145442.1
p.C102S
c.304T>A
1 paper
NM_001145442.1
p.W101L
c.302G>T
1 paper
NM_001145442.1
p.G111W
c.331G>T
1 paper
NM_001145442.1
p.G99S
c.295G>A
1 paper
NM_001145442.1
p.S112delFs
c.335_336delGC
1 paper
NM_001145442.1
p.K116insFs
c.347_348insA
1 paper
NM_001145442.1
p.K116E
c.346A>G
1 paper
NM_001145442.1
p.K92T
c.275A>C
1 paper
NM_001145442.1
p.P119P
c.357C>T
1 paper
NM_001145442.1
p.S89S
c.267T>G
1 paper
NM_001145442.1
p.S89F
c.266C>T
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