Varaico: Literature-Extracted Genetic Variants

Gene:SAMM50
Variant:p.T3T

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
1 paper
NM_015380.5
p.T3T
c.9T>G
Surrounding Variants
1 paper
NM_015380.5
p.V4V
c.12G>C
1 paper
NM_015380.5
p.R7_S8Splc
c.21+2633C>T
1 paper
NM_015380.5
p.E10K
c.28G>A
1 paper
NM_015380.5
p.P11delFs
c.31delC
1 paper
NM_015380.5
p.D18V
c.53A>T
1 paper
NM_015380.5
p.Q37*
c.109C>T
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