Varaico: Literature-Extracted Genetic Variants

Gene:POTED
Variant:p.M43L

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
3 papers
NM_174981.6
p.M43L
c.127A>T
Surrounding Variants
4 papers
NM_174981.6
p.M43V
c.127A>G
1 paper
NM_174981.6
p.H49N
c.145C>A
1 paper
NM_174981.6
p.R36K
c.107G>A
1 paper
NM_174981.6
p.C35R
c.103T>C
2 papers
NM_174981.6
p.H30D
c.88C>G
2 papers
NM_174981.6
p.M56T
c.167T>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
1 paper
NM_174981.6
p.H29D
c.85C>G
1 paper
NM_174981.6
p.W27C
c.81G>C
1 paper
NM_174981.6
p.W27C
c.81G>T
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