Varaico: Literature-Extracted Genetic Variants

Gene:TIMM13
Variant:p.*96fs

TIMM13

28 papers

RefSeq Summary

This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplas...

Pfam Domains

zf-Tim10_DDPaa 24–86UCSCTim10/DDP family zinc finger

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 13

HGNC Previous Symbol

TIMM13B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012458.4
p.*96fs
c.286_287fs
Surrounding Variants
1 paper
NM_012458.4
p.*96delFs
c.288delT
1 paper
NM_012458.4
p.M74I
c.222G>A
2 papers
NM_012458.4
p.C65S
c.194G>C
2 papers
NM_012458.4
p.C65S
c.193T>A
1 paper
NM_012458.4
p.C46C
c.138T>C
1 paper
NM_012458.4
p.Q40_R41Splc
c.120+1G>T
2 papers
NM_012458.4
p.Q36delFs
c.108delC
1 paper
NM_012458.4
p.A35A
c.105G>T
1 paper
NM_012458.4
p.G13A
c.38G>C
1 paper
NM_012458.4
p.E2D
c.6G>T
1 paper
NM_012458.4
p.M1I
c.3G>T
1 paper
NM_012458.4
p.M1I
c.3G>C
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