Varaico: Literature-Extracted Genetic Variants

Gene:KMT5C
Variant:p.M116L

KMT5C

35 papers

RefSeq Summary

SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., ...

Pfam Domains

SETaa 120–218UCSCSET domain

Gene Aliases

HGNC Name

lysine methyltransferase 5C

HGNC Previous Symbol

SUV420H2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032701.4
p.M116L
c.346A>C
Surrounding Variants
2 papers
NM_032701.4
p.M116L
c.346A>T
1 paper
NM_032701.4
p.G120R
c.358G>A
1 paper
NM_032701.4
p.G120R
c.358G>C
1 paper
NM_032701.4
p.R98H
c.293G>A
1 paper
NM_032701.4
p.R81Q
c.242G>A
1 paper
NM_032701.4
p.R76C
c.226C>T
1 paper
NM_032701.4
p.A67T
c.199G>A
1 paper
NM_032701.4
p.L61R
c.182T>G
1 paper
NM_032701.4
p.T19N
c.56C>A
1 paper
NM_032701.4
p.E13K
c.37G>A
1 paper
NM_032701.4
p.C12C
c.36C>T
1 paper
NM_032701.4
p.A155S
c.463G>T
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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."