Varaico: Literature-Extracted Genetic Variants

Gene:MIEF1
Variant:p.Y240N

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
2 papers
NM_019008.6
p.Y240N
c.718T>A
Surrounding Variants
1 paper
NM_019008.6
p.R235S
c.703C>A
1 paper
NM_019008.6
p.H201D
c.601C>G
1 paper
NM_019008.6
p.V197M
c.589G>A
1 paper
NM_019008.6
p.Q195_V196Splc
c.586-8C>A
1 paper
NM_019008.6
p.R288C
c.862C>T
1 paper
NM_019008.6
p.A295D
c.884C>A
1 paper
NM_019008.6
p.E303E
c.909G>A
1 paper
NM_019008.6
p.F312V
c.934T>G
1 paper
NM_019008.6
p.L318H
c.953T>A
1 paper
NM_019008.6
p.A325D
c.974C>A
1 paper
NM_019008.6
p.A344T
c.1030G>A
1 paper
NM_019008.6
p.T346T
c.1038G>C
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