Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.H69Q

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
9 papers
NM_000116.5
p.H69Q
c.207C>G
Surrounding Variants
8 papers
NM_000116.5
p.H69Q
c.207C>A
1 paper
NM_000116.5
p.H69L
c.206A>T
1 paper
NM_000116.5
p.Q70_S71del2
c.208_212del6
2 papers
NM_000116.5
p.Q70*
c.208C>T
1 paper
NM_000116.5
p.Q70R
c.209A>G
1 paper
NM_000116.5
p.S71P
c.211T>C
1 paper
NM_000116.5
p.N68_H69del2
c.202_206del6
1 paper
NM_000116.5
p.C72*
c.216C>A
1 paper
NM_000116.5
p.V66insFs
c.196_197insA
3 papers
NM_000116.5
p.D74E
c.222C>A
3 papers
NM_000116.5
p.D74E
c.222C>G
2 papers
NM_000116.5
p.D75N
c.223G>A
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