Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.R151Q

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
2 papers
NM_000370.3
p.R151Q
c.452G>A
Surrounding Variants
2 papers
NM_000370.3
p.G153R
c.457G>C
2 papers
NM_000370.3
p.G153R
c.457G>A
1 paper
NM_000370.3
p.I154F
c.460A>T
2 papers
NM_000370.3
p.F158S
c.473T>C
11 papers
NM_000370.3
p.E141K
c.421G>A
1 paper
NM_000370.3
p.G162fs
c.484_485fs
1 paper
NM_000370.3
p.G162delFs
c.485delC
1 paper
NM_000370.3
p.W163fs
c.487_488fs
8 papers
NM_000370.3
p.W163delFs
c.487delA
1 paper
NM_000370.3
p.W163fs
c.487_488fs
2 papers
NM_000370.3
p.E161_Q164del4
c.481_491del12
1 paper
NM_000370.3
p.R134Q
c.401G>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."