Varaico: Literature-Extracted Genetic Variants

Gene:POTEG
Variant:p.S12F

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
4 papers
NM_001005356.3
p.S12F
c.35C>T
Surrounding Variants
1 paper
NM_001005356.3
p.P9P
c.27G>A
2 papers
NM_001005356.3
p.S7L
c.20C>T
1 paper
NM_001005356.3
p.M1K
c.2T>A
1 paper
NM_001005356.3
p.H30Q
c.90C>G
1 paper
NM_001005356.3
p.H30Q
c.90C>A
2 papers
NM_001005356.3
p.G39S
c.115G>A
1 paper
NM_001005356.3
p.S41N
c.122G>A
1 paper
NM_001005356.3
p.G47E
c.140G>A
2 papers
NM_001005356.3
p.H49L
c.146A>T
1 paper
NM_001005356.3
p.S52S
c.156T>A
2 papers
NM_001005356.3
p.L57P
c.170T>C
1 paper
NM_001005356.3
p.C65*
c.195C>A
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