Varaico: Literature-Extracted Genetic Variants

Gene:KANK3
Variant:p.R359H

KANK3

46 papers

Pfam Domains

KN_motifaa 33–74UCSCKN motif
Ank_2aa 600–676UCSCAnkyrin repeats (3 copies)
Ank_2aa 668–760UCSCAnkyrin repeats (3 copies)
Ank_2aa 718–795UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

KN motif and ankyrin repeat domains 3

HGNC Previous Symbol

ANKRD47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_198471.3
p.R359H
c.1076G>A
Surrounding Variants
1 paper
NM_198471.3
p.S361S
c.1083T>C
2 papers
NM_198471.3
p.R375R
c.1125G>A
1 paper
NM_198471.3
p.V334V
c.1002G>T
1 paper
NM_198471.3
p.A329V
c.986C>T
1 paper
NM_198471.3
p.A307S
c.919G>T
1 paper
NM_198471.3
p.A304A
c.912C>T
2 papers
NM_198471.3
p.D288Y
c.862G>T
1 paper
NM_198471.3
p.P441A
c.1321C>G
1 paper
NM_198471.3
p.P460T
c.1378C>A
2 papers
NM_198471.3
p.L225delFs
c.674_675delCA
1 paper
NM_198471.3
p.K221E
c.661A>G
1 paper
NM_198471.3
p.G475E
c.1424G>A
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