Varaico: Literature-Extracted Genetic Variants

Gene:POTED
Variant:p.D251G

POTED

76 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 203–269UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
CCDC144Caa 457–584UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

POTE ankyrin domain family member D

HGNC Previous Symbols

ANKRD21; A26B3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_174981.6
p.D251G
c.752A>G
Surrounding Variants
8 papers
NM_174981.6
p.H244Y
c.730C>T
1 paper
NM_174981.6
p.A242T
c.724G>A
1 paper
NM_174981.6
p.G239*
c.715G>T
6 papers
NM_174981.6
p.D264Y
c.790G>T
1 paper
NM_174981.6
p.R232Q
c.695G>A
1 paper
NM_174981.6
p.L223F
c.669A>T
2 papers
NM_174981.6
p.C221R
c.661T>C
1 paper
NM_174981.6
p.N204fs
c.610_611fs
2 papers
NM_174981.6
p.V188I
c.562G>A
1 paper
NM_174981.6
p.V188fs
c.562_563fs
1 paper
NM_174981.6
p.K293N
c.879G>C
1 paper
NM_174981.6
p.K293N
c.879G>T
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