Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.K73_E74delFs

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.K73_E74delFs
c.219_222del4
Surrounding Variants
2 papers
NM_139242.4
p.E74fs
c.220_221fs
1 paper
NM_139242.4
p.D79N
c.235G>A
2 papers
NM_139242.4
p.L81P
c.242T>C
1 paper
NM_139242.4
p.V83_T85delFs
c.247_253del7
1 paper
NM_139242.4
p.G93A
c.278G>C
1 paper
NM_139242.4
p.R70Splc
c.210-97T>G
7 papers
NM_139242.4
p.S125L
c.374C>T
4 papers
NM_139242.4
p.R128*
c.382C>T
1 paper
NM_139242.4
p.A65V
c.194C>T
2 papers
NM_139242.4
p.A59V
c.176C>T
1 paper
NM_139242.4
p.A59T
c.175G>A
5 papers
NM_139242.4
p.F58I
c.172T>A
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