Varaico: Literature-Extracted Genetic Variants

Gene:POTEA

POTEA

2 papers

Pfam Domains

Ank_2aa 69–162UCSCAnkyrin repeats (3 copies)
Ank_2aa 169–261UCSCAnkyrin repeats (3 copies)
Ank_2aa 169–261UCSCAnkyrin repeats (3 copies)
Ank_2aa 225–295UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

POTE ankyrin domain family member A (gene/pseudogene)

HGNC Previous Symbol

A26A1

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001005365.2
p.W27C
c.81G>C
1 paper
NM_001005365.2
p.G188insFs
c.562dupG
1 paper
NM_001005365.2
p.I255M
c.765T>G
1 paper
NM_001005365.2
p.S274T
c.821G>C
1 paper
NM_001002920.1
p.E383fs
c.1147_1148fs
1 paper
NM_001005365.2
p.E429fs
c.1285_1286fs
1 paper
NM_001002920.1
p.E383delFs
c.1149delG
1 paper
NM_001005365.2
p.E429delFs
c.1287delG
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