Varaico: Literature-Extracted Genetic Variants

Gene:POTEH
Variant:p.C102insFs

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
Selected Variant
1 paper
NM_001136213.1
p.C102insFs
c.306dupC
Surrounding Variants
1 paper
NM_001136213.1
p.C103Fs
c.307delinsAGFs
1 paper
NM_001136213.1
p.C103R
c.307T>C
1 paper
NM_001136213.1
p.C103fs
c.307_308fs
1 paper
NM_001136213.1
p.C103fs
c.307_308fs
7 papers
NM_001136213.1
p.C108W
c.324C>G
1 paper
NM_001136213.1
p.T93T
c.279A>T
1 paper
NM_001136213.1
p.N116K
c.348C>A
1 paper
NM_001136213.1
p.N116K
c.348C>G
1 paper
NM_001136213.1
p.G84V
c.251G>T
2 papers
NM_001136213.1
p.D125D
c.375C>T
1 paper
NM_001136213.1
p.S75S
c.225C>T
4 papers
NM_001136213.1
p.W71C
c.213G>C
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