Varaico: Literature-Extracted Genetic Variants

Gene:IMMT
Variant:p.L51R

IMMT

232 papers

Pfam Domains

Mitofilinaa 6–647UCSCMitochondrial inner membrane protein

Gene Aliases

HGNC Name

inner membrane mitochondrial protein

HGNC Alias Symbols

P87; P89; HMP; MINOS2; Mic60; MICOS60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006839.3
p.L51R
c.152T>G
Surrounding Variants
2 papers
NM_006839.3
p.G50D
c.149G>A
1 paper
NM_006839.3
p.A49V
c.146C>T
1 paper
NM_006839.3
p.V54I
c.160G>A
2 papers
NM_006839.3
p.I46I
c.138T>A
1 paper
NM_006839.3
p.G57V
c.170G>T
1 paper
NM_006839.3
p.G44S
c.130G>A
1 paper
NM_006839.3
p.T43N
c.128C>A
1 paper
NM_006839.3
p.G60A
c.179G>C
2 papers
NM_006839.3
p.T61I
c.182C>T
1 paper
NM_006839.3
p.G40A
c.119G>C
2 papers
NM_006839.3
p.G40Splc
c.120-1G>A
1 paper
NM_006839.3
p.I62delFs
c.185_186delGA
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