Varaico: Literature-Extracted Genetic Variants

Gene:POTEH

POTEH

59 papers

Pfam Domains

Ank_2aa 180–273UCSCAnkyrin repeats (3 copies)
Ank_2aa 280–372UCSCAnkyrin repeats (3 copies)
Ank_2aa 321–404UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

POTE ankyrin domain family member H

HGNC Previous Symbols

ACTBL1; A26C3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
7 papers
NM_001136213.1
p.C108W
c.324C>G
4 papers
NM_001136213.1
p.S12F
c.35C>T
4 papers
NM_001136213.1
p.W71C
c.213G>C
4 papers
NM_001136213.1
p.W71C
c.213G>T
3 papers
NM_001136213.1
p.A33P
c.97G>C
3 papers
NM_001136213.1
p.C66R
c.196T>C
3 papers
NM_001136213.1
p.A183T
c.547G>A
2 papers
NM_001136213.1
p.D125D
c.375C>T
2 papers
NM_001136213.1
p.V172I
c.514G>A
2 papers
NM_001136213.1
p.A279T
c.835G>A
2 papers
NM_001136213.1
p.T311S
c.931A>T
2 papers
NM_001136213.1
p.R386H
c.1157G>A
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