Varaico: Literature-Extracted Genetic Variants

Gene:KANK4
Variant:p.R964C

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.R964C
c.2890C>T
Surrounding Variants
1 paper
NM_181712.5
p.R964H
c.2891G>A
1 paper
NM_181712.5
p.K961_A962Splc
c.2884-1G>C
1 paper
NM_181712.5
p.A970D
c.2909C>A
1 paper
NM_181712.5
p.S973*
c.2918C>G
1 paper
NM_181712.5
p.S973*
c.2918C>A
3 papers
NM_181712.5
p.A987V
c.2960C>T
1 paper
NM_181712.5
p.K961_A962Splc
c.2884-2800G>A
1 paper
NM_181712.5
p.D960fs
c.2878_2879fs
1 paper
NM_181712.5
p.D960insFs
c.2879_2880insT
2 papers
NM_181712.5
p.D955N
c.2863G>A
9 papers
NM_181712.5
p.V935L
c.2803G>T
9 papers
NM_181712.5
p.V935L
c.2803G>C
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