Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.S218L

MTFMT

103 papers

RefSeq Summary

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011].

Pfam Domains

Formyl_trans_Naa 49–220UCSCFormyl transferase
Formyl_trans_Caa 243–350UCSCFormyl transferase, C-terminal domain

Gene Aliases

HGNC Name

mitochondrial methionyl-tRNA formyltransferase

HGNC Alias Symbol

FMT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_139242.4
p.S218L
c.653C>T
Surrounding Variants
1 paper
NM_139242.4
p.I217F
c.649A>T
1 paper
NM_139242.4
p.M215_L216Splc
c.646-2A>T
1 paper
NM_139242.4
p.L223M
c.667T>A
2 papers
NM_139242.4
p.V219_N222del4
c.655_665del12
1 paper
NM_139242.4
p.L223F
c.669G>T
1 paper
NM_139242.4
p.L223F
c.669G>C
1 paper
NM_139242.4
p.G230E
c.689G>A
1 paper
NM_139242.4
p.Q233*
c.697C>T
43 papers
NM_139242.4
p.S209L
c.626C>T
1 paper
NM_139242.4
p.V207A
c.620T>C
1 paper
NM_139242.4
p.A201T
c.601G>A
1 paper
NM_139242.4
p.R181S
c.543G>T
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