Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G116D

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
3 papers
NM_000116.5
p.G116D
c.347G>A
Surrounding Variants
5 papers
NM_000116.5
p.G116G
c.348C>T
1 paper
NM_000116.5
p.G116R
c.346G>C
1 paper
NM_000116.5
p.K117E
c.349A>G
1 paper
NM_000116.5
p.L115L
c.345G>A
1 paper
NM_000116.5
p.K117T
c.350A>C
1 paper
NM_000116.5
p.K117R
c.350A>G
13 papers
NM_000116.5
p.C118R
c.352T>C
1 paper
NM_000116.5
p.C118Y
c.353G>A
2 papers
NM_000116.5
p.V119M
c.355G>A
2 papers
NM_000116.5
p.V119G
c.356T>G
1 paper
NM_000116.5
p.F112Y
c.335T>A
1 paper
NM_000116.5
p.F112I
c.334T>A
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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."