Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G80E

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.G80E
c.239G>A
Surrounding Variants
4 papers
NM_000116.5
p.G80R
c.238G>A
5 papers
NM_000116.5
p.G80R
c.238G>C
1 paper
NM_000116.5
p.G80Splc
c.238+2T>C
2 papers
NM_000116.5
p.W79*
c.237G>A
3 papers
NM_000116.5
p.W79*
c.236G>A
1 paper
NM_000116.5
p.G80Splc
c.238+5C>T
1 paper
NM_000116.5
p.G80Splc
c.238+6C>T
2 papers
NM_000116.5
p.H77Q
c.231T>A
2 papers
NM_000116.5
p.H77Q
c.231T>G
1 paper
NM_000116.5
p.G80Splc
c.238+10C>A
1 paper
NM_000116.5
p.G80Splc
c.238+11C>G
1 paper
NM_000116.5
p.H77Y
c.229C>T
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