Varaico: Literature-Extracted Genetic Variants

Gene:KANK4
Variant:p.S343F

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.S343F
c.1028C>T
Surrounding Variants
2 papers
NM_181712.5
p.E353K
c.1057G>A
1 paper
NM_181712.5
p.E361K
c.1081G>A
1 paper
NM_181712.5
p.D319Y
c.955G>T
1 paper
NM_181712.5
p.T368A
c.1102A>G
2 papers
NM_181712.5
p.E304K
c.910G>A
1 paper
NM_181712.5
p.R383delFs
c.1147delT
1 paper
NM_181712.5
p.E302G
c.905A>G
1 paper
NM_181712.5
p.R385*
c.1153C>T
1 paper
NM_181712.5
p.L298P
c.893T>C
1 paper
NM_181712.5
p.E295Q
c.883G>C
2 papers
NM_181712.5
p.P286L
c.857C>T
2 papers
NM_181712.5
p.T410M
c.1229C>T
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