Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G161R

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
2 papers
NM_000116.5
p.G161R
c.481G>C
Surrounding Variants
3 papers
NM_000116.5
p.G161R
c.481G>A
1 paper
NM_000116.5
p.G161insFs
c.481_482ins20
1 paper
NM_000116.5
p.G161E
c.482G>A
1 paper
NM_000116.5
p.K160*
c.478A>T
4 papers
NM_000116.5
p.Q159P
c.476A>C
1 paper
NM_000116.5
p.Q159R
c.476A>G
1 paper
NM_000116.5
p.V157F
c.469G>T
2 papers
NM_000116.5
p.L166*
c.497T>A
1 paper
NM_000116.5
p.G156_K160del5
c.466_479del15
1 paper
NM_000116.5
p.K168E
c.502A>G
1 paper
NM_000116.5
p.G154Splc
c.461-2A>C
4 papers
NM_000116.5
p.L169F
c.505C>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."