Varaico: Literature-Extracted Genetic Variants

Gene:POTEH
Variant:p.W71C

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
4 papers
NM_001136213.1
p.W71C
c.213G>T
Surrounding Variants
4 papers
NM_001136213.1
p.W71C
c.213G>C
1 paper
NM_001136213.1
p.P70S
c.208C>T
1 paper
NM_001136213.1
p.S75S
c.225C>T
3 papers
NM_001136213.1
p.C66R
c.196T>C
1 paper
NM_001136213.1
p.G84V
c.251G>T
1 paper
NM_001136213.1
p.K55M
c.164A>T
1 paper
NM_001136213.1
p.M54_L57del0
c.162_170del9
1 paper
NM_001136213.1
p.D51D
c.153T>C
1 paper
NM_001136213.1
p.T93T
c.279A>T
1 paper
NM_001136213.1
p.C102insFs
c.306dupC
1 paper
NM_001136213.1
p.C103Fs
c.307delinsAGFs
1 paper
NM_001136213.1
p.C103R
c.307T>C
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