Varaico: Literature-Extracted Genetic Variants

Gene:ETFBKMT
Variant:p.L43F

ETFBKMT

21 papers

Pfam Domains

PrmAaa 101–191UCSCRibosomal protein L11 methyltransferase (PrmA)

Gene Aliases

HGNC Name

electron transfer flavoprotein subunit beta lysine methyltransferase

HGNC Previous Symbols

C12orf72; METTL20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135863.2
p.L43F
c.129G>C
Surrounding Variants
1 paper
NM_001135863.2
p.L43F
c.129G>T
1 paper
NM_001135863.2
p.I47M
c.141A>G
1 paper
NM_001135863.2
p.L51L
c.153G>T
1 paper
NM_001135863.2
p.Q68delFs
c.202delC
2 papers
NM_001135863.2
p.A94S
c.280G>T
2 papers
NM_001135863.2
p.R105Splc
c.314+1G>A
1 paper
NM_001135863.2
p.D121A
c.362A>C
1 paper
NM_001135863.2
p.C158F
c.473G>T
1 paper
NM_001135863.2
p.E159D
c.477A>C
1 paper
NM_001135863.2
p.E159D
c.477A>T
1 paper
NM_001135863.2
p.N172S
c.515A>G
1 paper
NM_001135863.2
p.V185del1
c.553_554delGTT
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