Varaico: Literature-Extracted Genetic Variants

Gene:POTED
Variant:p.R132G

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
2 papers
NM_174981.6
p.R132G
c.394A>G
Surrounding Variants
7 papers
NM_174981.6
p.I135V
c.403A>G
1 paper
NM_174981.6
p.R136H
c.407G>A
2 papers
NM_174981.6
p.R137*
c.409C>T
1 paper
NM_174981.6
p.H125D
c.373C>G
1 paper
NM_174981.6
p.A119T
c.355G>A
4 papers
NM_174981.6
p.G113S
c.337G>A
1 paper
NM_174981.6
p.K151R
c.452A>G
1 paper
NM_174981.6
p.P153P
c.459C>T
1 paper
NM_174981.6
p.K155R
c.464A>G
1 paper
NM_174981.6
p.V159I
c.475G>A
1 paper
NM_174981.6
p.C103S
c.308G>C
1 paper
NM_174981.6
p.C103S
c.307T>A
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