Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.P179A

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.P179A
c.535C>G
Surrounding Variants
1 paper
NM_000116.5
p.F178L
c.534C>A
1 paper
NM_000116.5
p.F178L
c.534C>G
1 paper
NM_000116.5
p.P179delFs
c.535delC
1 paper
NM_000116.5
p.E180K
c.538G>A
3 papers
NM_000116.5
p.F178I
c.532T>A
1 paper
NM_000116.5
p.F178L
c.532T>C
1 paper
NM_000116.5
p.G181E
c.542G>A
1 paper
NM_000116.5
p.G181A
c.542G>C
1 paper
NM_000116.5
p.H176P
c.527A>C
7 papers
NM_000116.5
p.H176R
c.527A>G
1 paper
NM_000116.5
p.G181Splc
c.541+2T>C
3 papers
NM_000116.5
p.H176Y
c.526C>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."