Varaico: Literature-Extracted Genetic Variants

Gene:EEF2KMT

EEF2KMT

17 papers

Pfam Domains

FAM86aa 10–99UCSCFamily of unknown function
Methyltransf_16aa 122–297UCSCLysine methyltransferase

Gene Aliases

HGNC Name

eukaryotic elongation factor 2 lysine methyltransferase

HGNC Previous Symbol

FAM86A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
3 papers
NM_201400.4
p.G172A
c.515G>C
2 papers
NM_201400.4
p.L46L
c.138G>A
2 papers
NM_201400.4
p.S123C
c.368C>G
2 papers
NM_201400.4
p.F239I
c.715T>A
1 paper
NM_201400.4
p.L11H
c.32T>A
1 paper
NM_201400.4
p.K37K
c.111G>A
1 paper
NM_201400.4
p.L38*
c.113T>G
1 paper
NM_201400.4
p.L38*
c.113T>A
1 paper
NM_201400.4
p.S111T
c.332G>C
1 paper
NM_201400.4
p.S125I
c.374G>T
1 paper
NM_201400.4
p.L143L
c.429C>G
1 paper
NM_201400.4
p.K177*
c.529A>T
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