Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.A127T

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.A127T
c.379G>A
Surrounding Variants
3 papers
NM_001083538.3
p.S126S
c.378C>T
1 paper
NM_001083538.3
p.V135I
c.403G>A
1 paper
NM_001083538.3
p.D141Y
c.421G>T
1 paper
NM_001083538.3
p.G150A
c.449G>C
1 paper
NM_001083538.3
p.C103R
c.307T>C
1 paper
NM_001083538.3
p.P153P
c.459C>T
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
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