Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.K377Q

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
1 paper
NM_139242.4
p.K377Q
c.1129A>C
Surrounding Variants
2 papers
NM_139242.4
p.L372delFs
c.1116delA
1 paper
NM_139242.4
p.P373fs
c.1117_1118fs
2 papers
NM_139242.4
p.F367delFs
c.1100_1101delAA
3 papers
NM_139242.4
p.F367fs
c.1099_1100fs
6 papers
NM_139242.4
p.C365Y
c.1094G>A
1 paper
NM_139242.4
p.Q364Q
c.1092A>G
1 paper
NM_139242.4
p.N347S
c.1040A>G
1 paper
NM_139242.4
p.T341delFs
c.1022delG
1 paper
NM_139242.4
p.K337R
c.1010A>G
2 papers
NM_139242.4
p.S333*
c.998C>G
2 papers
NM_139242.4
p.S333*
c.998C>A
20 papers
NM_139242.4
p.R332*
c.994C>T
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