Varaico: Literature-Extracted Genetic Variants

Gene:POTED
Variant:p.C72Y

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.C72Y
c.215G>A
Surrounding Variants
1 paper
NM_174981.6
p.C72C
c.216C>T
1 paper
NM_174981.6
p.T77K
c.230C>A
1 paper
NM_174981.6
p.R66H
c.197G>A
1 paper
NM_174981.6
p.R66C
c.196C>T
1 paper
NM_174981.6
p.V80M
c.238G>A
1 paper
NM_174981.6
p.C64W
c.192T>G
1 paper
NM_174981.6
p.E87D
c.261A>C
1 paper
NM_174981.6
p.M56I
c.168G>A
1 paper
NM_174981.6
p.M56I
c.168G>C
1 paper
NM_174981.6
p.M56I
c.168G>T
2 papers
NM_174981.6
p.M56T
c.167T>C
1 paper
NM_174981.6
p.M91I
c.273G>A
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