Varaico: Literature-Extracted Genetic Variants

Gene:POTEH
Variant:p.S370S

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.S370S
c.1110T>G
Surrounding Variants
1 paper
NM_001136213.1
p.V358I
c.1072G>A
1 paper
NM_001136213.1
p.I357R
c.1070T>G
2 papers
NM_001136213.1
p.R386H
c.1157G>A
1 paper
NM_001136213.1
p.A355T
c.1063G>A
1 paper
NM_001136213.1
p.S354S
c.1062G>A
1 paper
NM_001136213.1
p.R343Splc
c.1028+2T>G
1 paper
NM_001136213.1
p.R343K
c.1028G>A
1 paper
NM_001136213.1
p.G342V
c.1025G>T
1 paper
NM_001136213.1
p.A333_L335delFs
c.999_1003del5
1 paper
NM_001136213.1
p.K331E
c.991A>G
1 paper
NM_001136213.1
p.L328F
c.984A>C
1 paper
NM_001136213.1
p.L328F
c.984A>T
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