Varaico: Literature-Extracted Genetic Variants

Gene:POTEH
Variant:p.A33P

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
3 papers
NM_001136213.1
p.A33P
c.97G>C
Surrounding Variants
1 paper
NM_001136213.1
p.W34*
c.101G>A
1 paper
NM_001136213.1
p.W34*
c.102G>A
1 paper
NM_001136213.1
p.R36delFs
c.106delA
1 paper
NM_001136213.1
p.R36fs
c.106_107fs
1 paper
NM_001136213.1
p.R29H
c.86G>A
1 paper
NM_001136213.1
p.R29L
c.86G>T
1 paper
NM_001136213.1
p.D51D
c.153T>C
4 papers
NM_001136213.1
p.S12F
c.35C>T
1 paper
NM_001136213.1
p.M54_L57del0
c.162_170del9
1 paper
NM_001136213.1
p.K55M
c.164A>T
3 papers
NM_001136213.1
p.C66R
c.196T>C
1 paper
NM_001136213.1
p.P70S
c.208C>T
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