Varaico: Literature-Extracted Genetic Variants

Gene:POTEI
Variant:p.R816H

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
6 papers
NM_001277406.2
p.R816H
c.2447G>A
Surrounding Variants
1 paper
NM_001277406.2
p.H801L
c.2402A>T
1 paper
NM_001277406.2
p.E799K
c.2395G>A
4 papers
NM_001277406.2
p.M839V
c.2515A>G
1 paper
NM_001277406.2
p.D857D
c.2571C>T
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.D867E
c.2601T>G
1 paper
NM_001277406.2
p.D867E
c.2601T>A
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.P738H
c.2213C>A
1 paper
NM_001277406.2
p.P738A
c.2212C>G
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