Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G172E

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.G172E
c.515G>A
Surrounding Variants
1 paper
NM_000116.5
p.G172R
c.514G>A
1 paper
NM_000116.5
p.D173fs
c.517_518fs
1 paper
NM_000116.5
p.D173fs
c.517_518fs
12 papers
NM_000116.5
p.D173delFs
c.517delG
1 paper
NM_000116.5
p.W174G
c.520T>G
1 paper
NM_000116.5
p.V175_F178del0
c.525_533del9
1 paper
NM_000116.5
p.L169H
c.506T>A
4 papers
NM_000116.5
p.L169F
c.505C>T
1 paper
NM_000116.5
p.V175V
c.525G>A
3 papers
NM_000116.5
p.H176Y
c.526C>T
1 paper
NM_000116.5
p.H176P
c.527A>C
7 papers
NM_000116.5
p.H176R
c.527A>G
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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."