Varaico: Literature-Extracted Genetic Variants

Gene:POTEG

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
1–12 of 45 variants
6 papers
NM_001005356.3
p.L379S
c.1136T>C
5 papers
NM_001005356.3
p.S76G
c.226A>G
4 papers
NM_001005356.3
p.S12F
c.35C>T
4 papers
NM_001005356.3
p.H349R
c.1046A>G
3 papers
NM_001005356.3
p.P434T
c.1300C>A
2 papers
NM_001005356.3
p.S7L
c.20C>T
2 papers
NM_001005356.3
p.G39S
c.115G>A
2 papers
NM_001005356.3
p.H49L
c.146A>T
2 papers
NM_001005356.3
p.L57P
c.170T>C
2 papers
NM_001005356.3
p.R66C
c.196C>T
2 papers
NM_001005356.3
p.D88D
c.264C>T
2 papers
NM_001005356.3
p.A127T
c.379G>A
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