Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.A4V

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
1 paper
NM_000370.3
p.A4V
c.11C>T
Surrounding Variants
1 paper
NM_000370.3
p.R5*
c.13C>T
1 paper
NM_000370.3
p.R5insFs
c.13_14insTT
1 paper
NM_000370.3
p.M1I
c.3G>T
1 paper
NM_000370.3
p.M1I
c.3G>C
1 paper
NM_000370.3
p.M1I
c.3G>A
4 papers
NM_000370.3
p.M1T
c.2T>C
1 paper
NM_000370.3
p.M1K
c.2T>A
1 paper
NM_000370.3
p.M1L
c.1A>T
1 paper
NM_000370.3
p.P12P
c.36G>T
1 paper
NM_000370.3
p.P12_Q13ins2
c.36_37ins6
1 paper
NM_000370.3
p.N15delFs
c.44delT
1 paper
NM_000370.3
p.H20fs
c.58_59fs
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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."