Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G197R

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
26 papers
NM_000116.5
p.G197R
c.589G>C
Surrounding Variants
26 papers
NM_000116.5
p.G197R
c.589G>A
5 papers
NM_000116.5
p.G197W
c.589G>T
5 papers
NM_000116.5
p.G197E
c.590G>A
10 papers
NM_000116.5
p.G197V
c.590G>T
1 paper
NM_000116.5
p.I196_G197insA
c.586_590ins3
1 paper
NM_000116.5
p.G195V
c.584G>T
1 paper
NM_000116.5
p.L199R
c.596T>G
1 paper
NM_000116.5
p.A201delFs
c.603delT
2 papers
NM_000116.5
p.E202_C203delFs
c.605_608del4
2 papers
NM_000116.5
p.E202fs
c.604_605fs
1 paper
NM_000116.5
p.E202V
c.605A>T
1 paper
NM_000116.5
p.L205F
c.613C>T
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