Varaico: Literature-Extracted Genetic Variants

Gene:KMT5C

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
1–12 of 32 variants
2 papers
NM_032701.4
p.M116L
c.346A>T
1 paper
NM_032701.4
p.C12C
c.36C>T
1 paper
NM_032701.4
p.E13K
c.37G>A
1 paper
NM_032701.4
p.T19N
c.56C>A
1 paper
NM_032701.4
p.L61R
c.182T>G
1 paper
NM_032701.4
p.A67T
c.199G>A
1 paper
NM_032701.4
p.R76C
c.226C>T
1 paper
NM_032701.4
p.R81Q
c.242G>A
1 paper
NM_032701.4
p.R98H
c.293G>A
1 paper
NM_032701.4
p.M116L
c.346A>C
1 paper
NM_032701.4
p.G120R
c.358G>A
1 paper
NM_032701.4
p.G120R
c.358G>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."