Varaico: Literature-Extracted Genetic Variants

Gene:KANK4
Variant:p.Q194R

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.Q194R
c.581A>G
Surrounding Variants
1 paper
NM_181712.5
p.G195D
c.584G>A
1 paper
NM_181712.5
p.P206H
c.617C>A
1 paper
NM_181712.5
p.S181N
c.542G>A
1 paper
NM_181712.5
p.F213L
c.637T>C
1 paper
NM_181712.5
p.F213L
c.639C>G
1 paper
NM_181712.5
p.F213L
c.639C>A
1 paper
NM_181712.5
p.S172N
c.515G>A
2 papers
NM_181712.5
p.T168M
c.503C>T
1 paper
NM_181712.5
p.A167A
c.501C>T
1 paper
NM_181712.5
p.R223fs
c.667_668fs
1 paper
NM_181712.5
p.I224N
c.671T>A
1 paper
NM_181712.5
p.P225L
c.674C>T
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