Varaico: Literature-Extracted Genetic Variants

Gene:KANK4
Variant:p.N256K

KANK4

111 papers

Pfam Domains

KN_motifaa 24–62UCSCKN motif
KN_motifaa 24–62UCSCKN motif
Ank_2aa 802–865UCSCAnkyrin repeats (3 copies)
Ank_2aa 850–926UCSCAnkyrin repeats (3 copies)
Ank_2aa 910–991UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

KN motif and ankyrin repeat domains 4

HGNC Previous Symbol

ANKRD38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_181712.5
p.N256K
c.768T>A
Surrounding Variants
1 paper
NM_181712.5
p.L258P
c.773T>C
1 paper
NM_181712.5
p.S253P
c.757T>C
1 paper
NM_181712.5
p.G237G
c.711T>C
1 paper
NM_181712.5
p.E236Q
c.706G>C
1 paper
NM_181712.5
p.E233delFs
c.698delT
1 paper
NM_181712.5
p.E226_G231delFs
c.677_693del17
1 paper
NM_181712.5
p.V228D
c.683T>A
2 papers
NM_181712.5
p.P286L
c.857C>T
1 paper
NM_181712.5
p.E226*
c.676G>T
1 paper
NM_181712.5
p.P225L
c.674C>T
1 paper
NM_181712.5
p.I224N
c.671T>A
1 paper
NM_181712.5
p.R223fs
c.667_668fs
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