Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.H101Q

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
29 papers
NM_000370.3
p.H101Q
c.303T>G
Surrounding Variants
26 papers
NM_000370.3
p.H101Q
c.303T>A
6 papers
NM_000370.3
p.G102G
c.306A>G
1 paper
NM_000370.3
p.A98T
c.292G>A
7 papers
NM_000370.3
p.A120T
c.358G>A
1 paper
NM_000370.3
p.A120Splc
c.358+1G>C
1 paper
NM_000370.3
p.W76_E79del4
c.226_236del12
2 papers
NM_000370.3
p.W76_E79del0
c.227_235del9
1 paper
NM_000370.3
p.R77fs
c.229_230fs
1 paper
NM_000370.3
p.W76_R77del1
c.228_230delCTC
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."