Varaico: Literature-Extracted Genetic Variants

Gene:POTEH
Variant:p.K153K

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.K153K
c.459A>G
Surrounding Variants
1 paper
NM_001136213.1
p.N152S
c.455A>G
1 paper
NM_001136213.1
p.G155C
c.463G>T
1 paper
NM_001136213.1
p.R147M
c.440G>T
1 paper
NM_001136213.1
p.D162_Y170del9
c.484_509del27
1 paper
NM_001136213.1
p.C145*
c.435C>A
1 paper
NM_001136213.1
p.A164T
c.490G>A
1 paper
NM_001136213.1
p.G136S
c.406G>A
2 papers
NM_001136213.1
p.V172I
c.514G>A
1 paper
NM_001136213.1
p.R173H
c.518G>A
2 papers
NM_001136213.1
p.D125D
c.375C>T
3 papers
NM_001136213.1
p.A183T
c.547G>A
1 paper
NM_001136213.1
p.W186L
c.557G>T
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