Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.F104V

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.F104V
c.310T>G
Surrounding Variants
1 paper
NM_000116.5
p.D101V
c.302A>T
1 paper
NM_000116.5
p.A99V
c.296C>T
1 paper
NM_000116.5
p.H109Y
c.325C>T
1 paper
NM_000116.5
p.A98V
c.293C>T
9 papers
NM_000116.5
p.S110P
c.328T>C
1 paper
NM_000116.5
p.P97delFs
c.291delT
1 paper
NM_000116.5
p.H111Y
c.331C>T
1 paper
NM_000116.5
p.T96fs
c.286_287fs
1 paper
NM_000116.5
p.F112I
c.334T>A
2 papers
NM_000116.5
p.F112V
c.334T>G
1 paper
NM_000116.5
p.W95*
c.285G>A
1 paper
NM_000116.5
p.F112Y
c.335T>A
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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."