Varaico: Literature-Extracted Genetic Variants

Gene:SAMM50
Variant:p.R416H

SAMM50

51 papers

RefSeq Summary

This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochon...

Pfam Domains

Omp85aa 151–468UCSCOmp85 superfamily domain

Gene Aliases

HGNC Name

SAMM50 sorting and assembly machinery component

HGNC Alias Symbols

CGI-51; TRG-3; YNL026W; OMP85; TOB55; SAM50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015380.5
p.R416H
c.1247G>A
Surrounding Variants
2 papers
NM_015380.5
p.H414Y
c.1240C>T
1 paper
NM_015380.5
p.C445C
c.1335C>T
1 paper
NM_015380.5
p.Q451delFs
c.1351_1352delCA
1 paper
NM_015380.5
p.Q451fs
c.1351_1352fs
1 paper
NM_015380.5
p.D454N
c.1360G>A
1 paper
NM_015380.5
p.A399T
c.1195G>A
1 paper
NM_015380.5
p.R392L
c.1175G>T
1 paper
NM_015380.5
p.R455Splc
c.1365-532G>A
1 paper
NM_015380.5
p.G463R
c.1387G>A
1 paper
NM_015380.5
p.G463R
c.1387G>C
3 papers
NM_015380.5
p.I345V
c.1033A>G
1 paper
NM_015380.5
p.F318Y
c.953T>A
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