Varaico: Literature-Extracted Genetic Variants

Gene:KANK4
Variant:p.Q117fs

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
1 paper
NM_181712.5
p.Q117fs
c.349_350fs
Surrounding Variants
1 paper
NM_181712.5
p.R122R
c.366G>A
1 paper
NM_181712.5
p.P110P
c.330A>G
1 paper
NM_181712.5
p.S109S
c.327A>G
1 paper
NM_181712.5
p.S126C
c.376A>T
1 paper
NM_181712.5
p.R138K
c.413G>A
1 paper
NM_181712.5
p.P83fs
c.247_248fs
1 paper
NM_181712.5
p.R156Q
c.467G>A
1 paper
NM_181712.5
p.F73V
c.217T>G
1 paper
NM_181712.5
p.F73I
c.217T>A
2 papers
NM_181712.5
p.R71Q
c.212G>A
1 paper
NM_181712.5
p.S163T
c.487T>A
1 paper
NM_181712.5
p.A167A
c.501C>T
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