Varaico: Literature-Extracted Genetic Variants

Gene:POTEG
Variant:p.Y248C

POTEG

60 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 296–368UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

POTE ankyrin domain family member G

HGNC Previous Symbol

A26C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005356.3
p.Y248C
c.743A>G
Surrounding Variants
1 paper
NM_001005356.3
p.A242T
c.724G>A
1 paper
NM_001005356.3
p.R196*
c.586C>T
2 papers
NM_001005356.3
p.F290Y
c.869T>A
1 paper
NM_001005356.3
p.D302V
c.905A>T
1 paper
NM_001005356.3
p.R306Splc
c.918-2A>T
1 paper
NM_001005356.3
p.S317L
c.950C>T
4 papers
NM_001005356.3
p.H349R
c.1046A>G
2 papers
NM_001005356.3
p.A146T
c.436G>A
2 papers
NM_001005356.3
p.L143L
c.429C>A
1 paper
NM_001005356.3
p.R136H
c.407G>A
1 paper
NM_001005356.3
p.H134H
c.402C>T
2 papers
NM_001005356.3
p.A127T
c.379G>A
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