Varaico: Literature-Extracted Genetic Variants

Gene:KMT5A
Variant:p.L181delFs

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
Selected Variant
3 papers
NM_020382.7
p.L181delFs
c.542_543delTT
Surrounding Variants
2 papers
NM_020382.7
p.L181fs
c.541_542fs
2 papers
NM_020382.7
p.L181fs
c.541_542fs
1 paper
NM_020382.7
p.T182T
c.546G>C
1 paper
NM_020382.7
p.R179C
c.535C>T
3 papers
NM_020382.7
p.D183A
c.548A>C
1 paper
NM_020382.7
p.N178S
c.533A>G
2 papers
NM_020382.7
p.T175M
c.524C>T
1 paper
NM_020382.7
p.R189delFs
c.567delG
1 paper
NM_020382.7
p.S190fs
c.568_569fs
1 paper
NM_020382.7
p.A171fs
c.511_512fs
1 paper
NM_020382.7
p.A196_E197ins15
c.586_590ins45
1 paper
NM_020382.7
p.K170Splc
c.509+1G>A
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