Varaico: Literature-Extracted Genetic Variants

Gene:KANK4

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
1–12 of 132 variants
9 papers
NM_181712.5
p.V935L
c.2803G>T
9 papers
NM_181712.5
p.V935L
c.2803G>C
8 papers
NM_181712.5
p.V840A
c.2519T>C
6 papers
NM_181712.5
p.N256K
c.768T>A
6 papers
NM_181712.5
p.T768A
c.2302A>G
5 papers
NM_181712.5
p.H822R
c.2465A>G
3 papers
NM_181712.5
p.A987V
c.2960C>T
2 papers
NM_181712.5
p.R71Q
c.212G>A
2 papers
NM_181712.5
p.T168M
c.503C>T
2 papers
NM_181712.5
p.P286L
c.857C>T
2 papers
NM_181712.5
p.E304K
c.910G>A
2 papers
NM_181712.5
p.E353K
c.1057G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."