Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.E141K

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
11 papers
NM_000370.3
p.E141K
c.421G>A
Surrounding Variants
1 paper
NM_000370.3
p.R134Q
c.401G>A
11 papers
NM_000370.3
p.R134*
c.400C>T
2 papers
NM_000370.3
p.R151Q
c.452G>A
2 papers
NM_000370.3
p.G153R
c.457G>C
1 paper
NM_000370.3
p.A129P
c.385G>C
2 papers
NM_000370.3
p.G153R
c.457G>A
1 paper
NM_000370.3
p.T128K
c.383C>A
1 paper
NM_000370.3
p.I154F
c.460A>T
1 paper
NM_000370.3
p.F127V
c.379T>G
2 papers
NM_000370.3
p.F158S
c.473T>C
1 paper
NM_000370.3
p.G162fs
c.484_485fs
12 papers
NM_000370.3
p.A120T
c.358G>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."