Varaico: Literature-Extracted Genetic Variants

Gene:TIMM23
Variant:p.L36Splc

TIMM23

67 papers

RefSeq Summary

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple trans...

Pfam Domains

Tim17aa 76–188UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 23

HGNC Alias Symbol

TIM23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006327.4
p.L36Splc
c.106+1G>T
Surrounding Variants
4 papers
NM_006327.4
p.G23E
c.68G>A
1 paper
NM_006327.4
p.G23R
c.67G>C
3 papers
NM_006327.4
p.G14V
c.41G>T
3 papers
NM_006327.4
p.N9D
c.25A>G
1 paper
NM_006327.4
p.M1T
c.2T>C
2 papers
NM_006327.4
p.M1V
c.1A>G
2 papers
NM_006327.4
p.S43delFs
c.127delT
1 paper
NM_006327.4
p.S43Y
c.128C>A
2 papers
NM_006327.4
p.S43C
c.128C>G
1 paper
NM_006327.4
p.F60I
c.178T>A
1 paper
NM_006327.4
p.G65*
c.193G>T
1 paper
NM_006327.4
p.T69S
c.205A>T
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