Varaico: Literature-Extracted Genetic Variants

Gene:POTEM
Variant:p.R174G

POTEM

341 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 301–368UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

POTE ankyrin domain family member M

HGNC Alias Symbols

POTE14beta; P704P; ACT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145442.1
p.R174G
c.520A>G
Surrounding Variants
1 paper
NM_001145442.1
p.K173del1
c.517_518delAAG
2 papers
NM_001145442.1
p.Q172*
c.514C>T
1 paper
NM_001145442.1
p.K171K
c.513G>A
1 paper
NM_001145442.1
p.D170N
c.508G>A
1 paper
NM_001145442.1
p.V159D
c.476T>A
1 paper
NM_001145442.1
p.D156A
c.467A>C
1 paper
NM_001145442.1
p.R154S
c.462A>T
1 paper
NM_001145442.1
p.G150D
c.449G>A
1 paper
NM_001145442.1
p.A146T
c.436G>A
1 paper
NM_001145442.1
p.L143_R145del3
c.427_434del9
2 papers
NM_001145442.1
p.V135I
c.403G>A
2 papers
NM_001145442.1
p.H134R
c.401A>G
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