Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.L212P

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.L212P
c.635T>C
Surrounding Variants
1 paper
NM_000116.5
p.L212fs
c.634_635fs
1 paper
NM_000116.5
p.P211P
c.633C>T
1 paper
NM_000116.5
p.W213delFs
c.638delG
1 paper
NM_000116.5
p.P211H
c.632C>A
1 paper
NM_000116.5
p.W213*
c.638G>A
1 paper
NM_000116.5
p.W213*
c.639G>A
1 paper
NM_000116.5
p.H214Y
c.640C>T
1 paper
NM_000116.5
p.H214fs
c.640_641fs
1 paper
NM_000116.5
p.L212delFs
c.634delC
6 papers
NM_000116.5
p.H214R
c.641A>G
4 papers
NM_000116.5
p.L210R
c.629T>G
1 paper
NM_000116.5
p.I209N
c.626T>A
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