Varaico: Literature-Extracted Genetic Variants

Gene:SAMM50
Variant:p.D110G

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
6 papers
NM_015380.5
p.D110G
c.329A>G
Surrounding Variants
1 paper
NM_015380.5
p.D110E
c.330C>A
1 paper
NM_015380.5
p.D110E
c.330C>G
1 paper
NM_015380.5
p.A111T
c.331G>A
1 paper
NM_015380.5
p.N151_L152del1
c.453_455delTCT
1 paper
NM_015380.5
p.L153F
c.457C>T
1 paper
NM_015380.5
p.F177del1
c.529_530delTTC
1 paper
NM_015380.5
p.T196I
c.587C>T
1 paper
NM_015380.5
p.S216G
c.646A>G
1 paper
NM_015380.5
p.T105A
c.313A>G
1 paper
NM_015380.5
p.A86A
c.258C>A
1 paper
NM_015380.5
p.T241M
c.722C>T
2 papers
NM_015380.5
p.R247*
c.739C>T
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