Varaico: Literature-Extracted Genetic Variants

Gene:ANKDD1A
Variant:p.R501K

ANKDD1A

42 papers

Pfam Domains

Ank_2aa 19–121UCSCAnkyrin repeats (3 copies)
Ank_2aa 95–189UCSCAnkyrin repeats (3 copies)
Ank_2aa 163–255UCSCAnkyrin repeats (3 copies)
Ank_2aa 237–321UCSCAnkyrin repeats (3 copies)
Ank_2aa 302–384UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and death domain containing 1A

HGNC Alias Symbol

FLJ25870

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182703.6
p.R501K
c.1502G>A
Surrounding Variants
1 paper
NM_182703.6
p.Q503*
c.1507C>T
1 paper
NM_182703.6
p.Q503R
c.1508A>G
1 paper
NM_182703.6
p.M499V
c.1495A>G
1 paper
NM_182703.6
p.T498A
c.1492A>G
1 paper
NM_182703.6
p.M514V
c.1540A>G
1 paper
NM_182703.6
p.M514fs
c.1540_1541fs
1 paper
NM_182703.6
p.I515T
c.1544T>C
2 papers
NM_182703.6
p.L516L
c.1548T>C
1 paper
NM_182703.6
p.V517L
c.1549G>C
1 paper
NM_182703.6
p.V517L
c.1549G>T
1 paper
NM_182703.6
p.Q519R
c.1556A>G
1 paper
NM_182703.6
p.G495Splc
c.1483+2616C>T
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