Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.G858R

POTEE

114 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 302–368UCSCAnkyrin repeats (3 copies)
CCDC144Caa 585–708UCSCCCDC144C protein coiled-coil region
Actinaa 702–1075UCSCActin

Gene Aliases

HGNC Name

POTE ankyrin domain family member E

HGNC Previous Symbol

A26C1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001083538.3
p.G858R
c.2572G>C
Surrounding Variants
1 paper
NM_001083538.3
p.G858R
c.2572G>A
1 paper
NM_001083538.3
p.V859I
c.2575G>A
1 paper
NM_001083538.3
p.V859F
c.2575G>T
5 papers
NM_001083538.3
p.E867D
c.2601G>C
5 papers
NM_001083538.3
p.E867D
c.2601G>T
3 papers
NM_001083538.3
p.R847H
c.2540G>A
2 papers
NM_001083538.3
p.H873N
c.2617C>A
3 papers
NM_001083538.3
p.P840L
c.2519C>T
1 paper
NM_001083538.3
p.D887Y
c.2659G>T
1 paper
NM_001083538.3
p.D887E
c.2661C>A
1 paper
NM_001083538.3
p.D887E
c.2661C>G
1 paper
NM_001083538.3
p.I892V
c.2674A>G
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