Varaico: Literature-Extracted Genetic Variants

Gene:KANK3
Variant:p.E674_D675del2

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
2 papers
NM_198471.3
p.E674_D675del2
c.2020_2024del6
Surrounding Variants
4 papers
NM_198471.3
p.E674_D675del1
c.2022_2024delTCC
1 paper
NM_198471.3
p.E672V
c.2015A>T
1 paper
NM_198471.3
p.A660V
c.1979C>T
1 paper
NM_198471.3
p.R708*
c.2122C>T
1 paper
NM_198471.3
p.E738K
c.2212G>A
2 papers
NM_198471.3
p.R746W
c.2236C>T
1 paper
NM_198471.3
p.L759L
c.2275C>T
1 paper
NM_198471.3
p.N761_E762Splc
c.2283+9C>T
1 paper
NM_198471.3
p.Q794_S795Splc
c.2383-14T>A
1 paper
NM_198471.3
p.N817K
c.2451C>G
1 paper
NM_198471.3
p.N817K
c.2451C>A
2 papers
NM_198471.3
p.E610K
c.1828G>A
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