Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.V49fs

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.V49fs
c.145_146fs
Surrounding Variants
1 paper
NM_000116.5
p.E48Fs
c.143delinsGGFs
1 paper
NM_000116.5
p.V49delFs
c.145delG
2 papers
NM_000116.5
p.L50P
c.149T>C
1 paper
NM_000116.5
p.R47T
c.140G>C
1 paper
NM_000116.5
p.Y51N
c.151T>A
1 paper
NM_000116.5
p.N46I
c.137A>T
4 papers
NM_000116.5
p.Y51*
c.153C>A
6 papers
NM_000116.5
p.Y51*
c.153C>G
1 paper
NM_000116.5
p.E52_I54delFs
c.156_160del5
1 paper
NM_000116.5
p.E52G
c.155A>G
1 paper
NM_000116.5
p.H45Q
c.135C>G
4 papers
NM_000116.5
p.H45_N46Fs
c.134_136delinsCCFs
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