Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.Y73_Y74insFs

TTPA

159 papers

RefSeq Summary

This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the bo...

Pfam Domains

CRAL_TRIO_Naa 34–72UCSCCRAL/TRIO, N-terminal domain
CRAL_TRIOaa 97–247UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

alpha tocopherol transfer protein

HGNC Previous Symbol

AVED

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000370.3
p.Y73_Y74insFs
c.219_220insAT
Surrounding Variants
1 paper
NM_000370.3
p.Y73*
c.219T>G
1 paper
NM_000370.3
p.Y73*
c.219T>A
1 paper
NM_000370.3
p.Y73insFs
c.218_219dupAT
1 paper
NM_000370.3
p.Y73N
c.217T>A
3 papers
NM_000370.3
p.W76*
c.227G>A
1 paper
NM_000370.3
p.W76fs
c.226_227fs
2 papers
NM_000370.3
p.W76*
c.228G>A
2 papers
NM_000370.3
p.R77*
c.229A>T
2 papers
NM_000370.3
p.R77insFs
c.229_230insTT
5 papers
NM_000370.3
p.W76_R77delins
c.227_229delinsATT
1 paper
NM_000370.3
p.W76_R77Fs
c.227_229delinsATFs
2 papers
NM_000370.3
p.W76delFs
c.227_228delCC
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