Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.R59W

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
14 papers
NM_000370.3
p.R59W
c.175C>T
Surrounding Variants
2 papers
NM_000370.3
p.A58D
c.173C>A
1 paper
NM_000370.3
p.D60N
c.178G>A
2 papers
NM_000370.3
p.R54_F55delFs
c.161_164del4
1 paper
NM_000370.3
p.L63L
c.187C>T
1 paper
NM_000370.3
p.R54fs
c.160_161fs
1 paper
NM_000370.3
p.R54fs
c.160_161fs
4 papers
NM_000370.3
p.D64G
c.191A>G
1 paper
NM_000370.3
p.D49N
c.145G>A
1 paper
NM_000370.3
p.L42L
c.126C>T
2 papers
NM_000370.3
p.P41Q
c.122C>A
1 paper
NM_000370.3
p.E37D
c.111A>T
1 paper
NM_000370.3
p.R36_E37ins6
c.106_110ins18
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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."