Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.S258*

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.S258*
c.773C>A
Surrounding Variants
1 paper
NM_000116.5
p.A259V
c.776C>T
1 paper
NM_000116.5
p.A259_V260Splc
c.777+1G>A
7 papers
NM_000116.5
p.A259_V260Splc
c.777+2T>A
2 papers
NM_000116.5
p.R253Q
c.758G>A
2 papers
NM_000116.5
p.R251L
c.752G>T
1 paper
NM_000116.5
p.E250del1
c.748_749delGAG
1 paper
NM_000116.5
p.P247H
c.740C>A
1 paper
NM_000116.5
p.F243_S244insFs
c.729_730insTT
2 papers
NM_000116.5
p.P242_R251del0
c.725_751del27
12 papers
NM_000116.5
p.G240R
c.718G>A
12 papers
NM_000116.5
p.G240R
c.718G>C
1 paper
NM_181312.4
p.G226_A231delFs
c.678_691del14
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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."