Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.R80*

TIMM8A

147 papers

RefSeq Summary

This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Dea...

Pfam Domains

zf-Tim10_DDPaa 21–45UCSCTim10/DDP family zinc finger
zf-Tim10_DDPaa 21–83UCSCTim10/DDP family zinc finger

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 8A

HGNC Previous Symbol

DFN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_004085.4
p.R80*
c.238C>T
Surrounding Variants
1 paper
NM_004085.4
p.L78fs
c.232_233fs
3 papers
NM_004085.4
p.L78insFs
c.232_233ins4
1 paper
NM_004085.4
p.E82Q
c.244G>C
1 paper
NM_004085.4
p.L78fs
c.232_233fs
1 paper
NM_004085.4
p.Q83*
c.247C>T
1 paper
NM_004085.4
p.E82delFs
c.245delT
1 paper
NM_004085.4
p.Q83P
c.248A>C
1 paper
NM_004085.4
p.Q75fs
c.223_224fs
3 papers
NM_004085.4
p.Q75*
c.223C>T
3 papers
NM_004085.4
p.S74T
c.221G>C
1 paper
NM_004085.4
p.D72Y
c.214G>T
1 paper
NM_004085.4
p.K88R
c.263A>G
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