Varaico: Literature-Extracted Genetic Variants

Gene:POTEI
Variant:p.C72_S75delFs

POTEI

41 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 304–368UCSCAnkyrin repeats (3 copies)
CCDC144Caa 585–708UCSCCCDC144C protein coiled-coil region
Actinaa 702–1075UCSCActin

Gene Aliases

HGNC Name

POTE ankyrin domain family member I

HGNC Alias Symbol

POTE2beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001277406.2
p.C72_S75delFs
c.216_225del10
Surrounding Variants
1 paper
NM_001277406.2
p.K63R
c.188A>G
2 papers
NM_001277406.2
p.T93T
c.279G>T
1 paper
NM_001277406.2
p.D51N
c.151G>A
1 paper
NM_001277406.2
p.Q49H
c.147G>T
1 paper
NM_001277406.2
p.Q49H
c.147G>C
1 paper
NM_001277406.2
p.A10_S22delFs
c.29_65del37
1 paper
NM_001277406.2
p.Y133H
c.397T>C
1 paper
NM_001277406.2
p.R137*
c.409C>T
1 paper
NM_001277406.2
p.G187R
c.559G>A
1 paper
NM_001277406.2
p.E220G
c.659A>G
1 paper
NM_001277406.2
p.C216_L225del10
c.646_674del30
1 paper
NM_001277406.2
p.V280I
c.838G>A
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