Varaico: Literature-Extracted Genetic Variants

Gene:TIMM22
Variant:p.C141S

TIMM22

52 papers

RefSeq Summary

Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore transloc...

Pfam Domains

Tim17aa 69–186UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 22

HGNC Alias Symbol

TIM22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013337.4
p.C141S
c.421T>A
Surrounding Variants
1 paper
NM_013337.4
p.C141R
c.421T>C
2 papers
NM_013337.4
p.C141S
c.422G>C
1 paper
NM_013337.4
p.T139I
c.416C>T
1 paper
NM_013337.4
p.C138S
c.413G>C
1 paper
NM_013337.4
p.C138S
c.412T>A
1 paper
NM_013337.4
p.M118T
c.353T>C
1 paper
NM_013337.4
p.D104E
c.312T>A
1 paper
NM_013337.4
p.D104E
c.312T>G
2 papers
NM_013337.4
p.V98V
c.294G>A
1 paper
NM_013337.4
p.D95N
c.283G>A
1 paper
NM_013337.4
p.G93A
c.278G>C
1 paper
NM_013337.4
p.G85S
c.253G>A
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