Varaico: Literature-Extracted Genetic Variants

Gene:KANK4
Variant:p.E470D

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.E470D
c.1410A>T
Surrounding Variants
1 paper
NM_181712.5
p.E470D
c.1410A>C
1 paper
NM_181712.5
p.Q466H
c.1398G>T
1 paper
NM_181712.5
p.Q466H
c.1398G>C
1 paper
NM_181712.5
p.G460D
c.1379G>A
1 paper
NM_181712.5
p.G482*
c.1444G>T
1 paper
NM_181712.5
p.E484*
c.1450G>T
1 paper
NM_181712.5
p.S439R
c.1317C>G
1 paper
NM_181712.5
p.S439R
c.1317C>A
1 paper
NM_181712.5
p.S439N
c.1316G>A
1 paper
NM_181712.5
p.S439R
c.1315A>C
1 paper
NM_181712.5
p.E503*
c.1507G>T
1 paper
NM_181712.5
p.G438S
c.1312G>A
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