Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN

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
1–12 of 322 variants
26 papers
NM_000116.5
p.G197R
c.589G>A
26 papers
NM_000116.5
p.G197R
c.589G>C
17 papers
NM_000116.5
p.G216R
c.646G>A
17 papers
NM_000116.5
p.G216R
c.646G>C
14 papers
NM_000116.5
p.R123*
c.367C>T
13 papers
NM_000116.5
p.R94H
c.281G>A
13 papers
NM_000116.5
p.C118R
c.352T>C
12 papers
NM_000116.5
p.F128S
c.383T>C
12 papers
NM_000116.5
p.D173delFs
c.517delG
12 papers
NM_000116.5
p.G240R
c.718G>A
12 papers
NM_000116.5
p.G240R
c.718G>C
10 papers
NM_000116.5
p.R57L
c.170G>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."