Varaico: Literature-Extracted Genetic Variants

Gene:KMT5A

KMT5A

129 papers

RefSeq Summary

The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required...

Gene Aliases

HGNC Name

lysine methyltransferase 5A

HGNC Previous Symbol

SETD8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 165 variants
17 papers
NM_020382.7
p.L332P
c.995T>C
9 papers
NM_020382.7
p.D240A
c.719A>C
8 papers
NM_020382.7
p.G122R
c.364G>C
8 papers
NM_020382.7
p.C302R
c.904T>C
6 papers
NM_020382.7
p.P60L
c.179C>T
6 papers
NM_020382.7
p.K121R
c.362A>G
6 papers
NM_020382.7
p.R238P
c.713G>C
6 papers
NM_020382.7
p.Y334F
c.1001A>T
4 papers
NM_020382.7
p.A17del1
c.49_50delGCG
3 papers
NM_020382.7
p.Q155P
c.464A>C
3 papers
NM_020382.7
p.L181delFs
c.542_543delTT
3 papers
NM_020382.7
p.D183A
c.548A>C
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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."