Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.R181fs

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
8 papers
NM_139242.4
p.R181fs
c.541_542fs
Surrounding Variants
1 paper
NM_139242.4
p.R181M
c.542G>T
1 paper
NM_139242.4
p.I160T
c.479T>C
1 paper
NM_139242.4
p.V159A
c.476T>C
1 paper
NM_139242.4
p.H146_W153del8
c.436_458del24
1 paper
NM_139242.4
p.W153C
c.459G>T
1 paper
NM_139242.4
p.W153C
c.459G>C
1 paper
NM_139242.4
p.R152I
c.455G>T
5 papers
NM_139242.4
p.P151L
c.452C>T
1 paper
NM_139242.4
p.S148G
c.442A>G
2 papers
NM_139242.4
p.V145G
c.434T>G
1 paper
NM_139242.4
p.Y140H
c.418T>C
1 paper
NM_139242.4
p.R181S
c.543G>T
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