Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.L53R

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.L53R
c.158T>G
Surrounding Variants
3 papers
NM_000116.5
p.L53insFs
c.158_159insC
1 paper
NM_000116.5
p.L53F
c.157C>T
1 paper
NM_000116.5
p.L53fs
c.157_158fs
1 paper
NM_000116.5
p.L53insFs
c.157dupC
1 paper
NM_000116.5
p.E52G
c.155A>G
1 paper
NM_000116.5
p.I54N
c.161T>A
1 paper
NM_000116.5
p.I54delFs
c.162delC
1 paper
NM_000116.5
p.E52_I54delFs
c.156_160del5
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.E55K
c.163G>A
1 paper
NM_000116.5
p.Y51N
c.151T>A
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