Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.L92*

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.L92*
c.275T>A
Surrounding Variants
1 paper
NM_000116.5
p.K91E
c.271A>G
8 papers
NM_000116.5
p.R94S
c.280C>A
4 papers
NM_000116.5
p.R94G
c.280C>G
9 papers
NM_000116.5
p.R94C
c.280C>T
13 papers
NM_000116.5
p.R94H
c.281G>A
1 paper
NM_000116.5
p.R94P
c.281G>C
2 papers
NM_000116.5
p.R94L
c.281G>T
3 papers
NM_000116.5
p.L90P
c.269T>C
1 paper
NM_000116.5
p.W95insFs
c.284dupG
1 paper
NM_000116.5
p.W95*
c.284G>A
1 paper
NM_000116.5
p.W95*
c.285G>A
2 papers
NM_000116.5
p.W95Splc
c.284+1G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."