Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G134E

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.G134E
c.401G>A
Surrounding Variants
1 paper
NM_000116.5
p.K135E
c.403A>G
1 paper
NM_000116.5
p.A130T
c.388G>A
2 papers
NM_000116.5
p.D139E
c.417C>A
12 papers
NM_000116.5
p.F128S
c.383T>C
1 paper
NM_000116.5
p.F128ins1
c.383_384insTAA
1 paper
NM_000116.5
p.E126E
c.378A>G
1 paper
NM_000116.5
p.R142K
c.425G>A
1 paper
NM_000116.5
p.A147T
c.439G>A
1 paper
NM_000116.5
p.G124R
c.370G>A
1 paper
NM_000116.5
p.G124R
c.370G>C
1 paper
NM_000116.5
p.R123Q
c.368G>A
14 papers
NM_000116.5
p.R123*
c.367C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."