Varaico: Literature-Extracted Genetic Variants

Gene:KANK3
Variant:p.V557G

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
1 paper
NM_198471.3
p.V557G
c.1670T>G
Surrounding Variants
4 papers
NM_198471.3
p.D489_E493del5
c.1465_1478del15
4 papers
NM_198471.3
p.D489_E493del0
c.1467_1478del12
1 paper
NM_198471.3
p.D489A
c.1466A>C
1 paper
NM_198471.3
p.D487E
c.1461C>G
1 paper
NM_198471.3
p.D487E
c.1461C>A
1 paper
NM_198471.3
p.G475E
c.1424G>A
1 paper
NM_198471.3
p.P460T
c.1378C>A
1 paper
NM_198471.3
p.G603E
c.1808G>A
1 paper
NM_198471.3
p.R606C
c.1816C>T
2 papers
NM_198471.3
p.E610K
c.1828G>A
1 paper
NM_198471.3
p.P441A
c.1321C>G
2 papers
NM_198471.3
p.R375R
c.1125G>A
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