Varaico: Literature-Extracted Genetic Variants

Gene:POTEI
Variant:p.K913T

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.K913T
c.2738A>C
Surrounding Variants
1 paper
NM_001277406.2
p.Y918F
c.2753A>T
1 paper
NM_001277406.2
p.Y898C
c.2693A>G
1 paper
NM_001277406.2
p.A930V
c.2789C>T
1 paper
NM_001277406.2
p.M890L
c.2668A>T
1 paper
NM_001277406.2
p.M890L
c.2668A>C
1 paper
NM_001277406.2
p.I950V
c.2848A>G
1 paper
NM_001277406.2
p.N952N
c.2856C>T
1 paper
NM_001277406.2
p.D867E
c.2601T>G
1 paper
NM_001277406.2
p.D867E
c.2601T>A
1 paper
NM_001277406.2
p.G858R
c.2572G>C
1 paper
NM_001277406.2
p.G858R
c.2572G>A
1 paper
NM_001277406.2
p.D857D
c.2571C>T
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