Varaico: Literature-Extracted Genetic Variants

Gene:IMMT
Variant:p.R72R

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.R72R
c.216G>C
Surrounding Variants
1 paper
NM_006839.3
p.V75_E76del2
c.223_227del6
1 paper
NM_006839.3
p.P80L
c.239C>T
2 papers
NM_006839.3
p.T78_Y81del0
c.234_242del9
1 paper
NM_006839.3
p.I62delFs
c.185_186delGA
1 paper
NM_006839.3
p.D83N
c.247G>A
2 papers
NM_006839.3
p.T61I
c.182C>T
1 paper
NM_006839.3
p.G60A
c.179G>C
1 paper
NM_006839.3
p.G57V
c.170G>T
1 paper
NM_006839.3
p.M88V
c.262A>G
1 paper
NM_006839.3
p.V89insFs
c.266_267insC
2 papers
NM_006839.3
p.M88_V89del1
c.263_265delCCA
1 paper
NM_006839.3
p.L90F
c.268C>T
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