Varaico: Literature-Extracted Genetic Variants

Gene:MIEF1
Variant:p.F312V

MIEF1

59 papers

Pfam Domains

MID51-like_Caa 153–345UCSCMitochondrial dynamics protein MID51-like, C-terminal domain
Mab-21_Caa 359–451UCSCMab-21 protein HhH/H2TH-like domain

Gene Aliases

HGNC Name

mitochondrial elongation factor 1

HGNC Previous Symbol

SMCR7L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019008.6
p.F312V
c.934T>G
Surrounding Variants
1 paper
NM_019008.6
p.L318H
c.953T>A
1 paper
NM_019008.6
p.E303E
c.909G>A
1 paper
NM_019008.6
p.A325D
c.974C>A
1 paper
NM_019008.6
p.A295D
c.884C>A
1 paper
NM_019008.6
p.R288C
c.862C>T
1 paper
NM_019008.6
p.A344T
c.1030G>A
1 paper
NM_019008.6
p.T346T
c.1038G>C
1 paper
NM_019008.6
p.S357L
c.1070C>T
1 paper
NM_019008.6
p.K368E
c.1102A>G
1 paper
NM_019008.6
p.K372E
c.1114A>G
1 paper
NM_019008.6
p.S383R
c.1147A>C
1 paper
NM_019008.6
p.S383R
c.1149C>A
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