Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.R85C

TAFAZZIN

406 papers

RefSeq Summary

This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, d...

Pfam Domains

Acyltransferaseaa 59–219UCSCAcyltransferase

Gene Aliases

HGNC Name

tafazzin, phospholipid-lysophospholipid transacylase

HGNC Previous Symbols

CMD3A; EFE2; EFE; TAZ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000116.5
p.R85C
c.253C>T
Surrounding Variants
2 papers
NM_000116.5
p.R85fs
c.253_254fs
4 papers
NM_000116.5
p.R85insFs
c.253_254insC
1 paper
NM_000116.5
p.H86N
c.256C>A
1 paper
NM_000116.5
p.H86Y
c.256C>T
1 paper
NM_001303465.2
p.H104P
c.311A>C
3 papers
NM_000116.5
p.L82P
c.245T>C
1 paper
NM_000116.5
p.I81I
c.243C>A
1 paper
NM_000116.5
p.G80E
c.239G>A
2 papers
NM_000116.5
p.G80Splc
c.239-1G>A
1 paper
NM_000116.5
p.G80Splc
c.239-1G>C
3 papers
NM_000116.5
p.L90P
c.269T>C
1 paper
NM_000116.5
p.K91E
c.271A>G
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