Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.C103R

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.C103R
c.307T>C
Surrounding Variants
2 papers
NM_001083538.3
p.G99G
c.297G>C
1 paper
NM_001083538.3
p.G99_K100insFs
c.297_298insC
1 paper
NM_001083538.3
p.G99Fs
c.297delinsGGCFs
1 paper
NM_001083538.3
p.G99fs
c.295_296fs
1 paper
NM_001083538.3
p.N96N
c.288C>T
3 papers
NM_001083538.3
p.N96S
c.287A>G
1 paper
NM_001083538.3
p.A90D
c.269C>A
1 paper
NM_001083538.3
p.D87Y
c.259G>T
1 paper
NM_001083538.3
p.G84R
c.250G>A
1 paper
NM_001083538.3
p.G84R
c.250G>C
2 papers
NM_001083538.3
p.A82T
c.244G>A
1 paper
NM_001083538.3
p.G81G
c.243C>T
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