Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.R49fs

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.R49fs
c.145_146fs
Surrounding Variants
1 paper
NM_139242.4
p.R49_L51delFs
c.146_153del8
1 paper
NM_139242.4
p.F53I
c.157T>A
2 papers
NM_139242.4
p.G54S
c.160G>A
1 paper
NM_139242.4
p.R43L
c.128G>T
5 papers
NM_139242.4
p.F58I
c.172T>A
1 paper
NM_139242.4
p.A59T
c.175G>A
2 papers
NM_139242.4
p.A59V
c.176C>T
1 paper
NM_139242.4
p.A65V
c.194C>T
3 papers
NM_139242.4
p.Q25*
c.73C>T
1 paper
NM_139242.4
p.C8Y
c.23G>A
1 paper
NM_139242.4
p.R7H
c.20G>A
1 paper
NM_139242.4
p.R6P
c.17G>C
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