Varaico: Literature-Extracted Genetic Variants

Gene:KANK4
Variant:p.P531S

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.P531S
c.1591C>T
Surrounding Variants
1 paper
NM_181712.5
p.S526S
c.1578C>T
1 paper
NM_181712.5
p.G525fs
c.1573_1574fs
1 paper
NM_181712.5
p.P543T
c.1627C>A
1 paper
NM_181712.5
p.P543Q
c.1628C>A
1 paper
NM_181712.5
p.R517K
c.1550G>A
1 paper
NM_181712.5
p.T516I
c.1547C>T
1 paper
NM_181712.5
p.S554L
c.1661C>T
1 paper
NM_181712.5
p.A504V
c.1511C>T
1 paper
NM_181712.5
p.E503*
c.1507G>T
1 paper
NM_181712.5
p.E484*
c.1450G>T
1 paper
NM_181712.5
p.G482*
c.1444G>T
1 paper
NM_181712.5
p.E470D
c.1410A>T
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