Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.T172insFs

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
3 papers
NM_000370.3
p.T172insFs
c.514_515insTT
Surrounding Variants
2 papers
NM_000370.3
p.T172fs
c.514_515fs
29 papers
NM_000370.3
p.I171_T172insFs
c.513_514insTT
1 paper
NM_000370.3
p.I171_T172insFs
c.513_514insTG
2 papers
NM_000370.3
p.I171_T172insFs
c.513_514insTC
1 paper
NM_000370.3
p.T172fs
c.514_515fs
1 paper
NM_000370.3
p.P173S
c.517C>T
1 paper
NM_000370.3
p.A168A
c.504T>C
1 paper
NM_000370.3
p.A176G
c.527C>G
1 paper
NM_000370.3
p.K177fs
c.529_530fs
1 paper
NM_000370.3
p.K177Fs
c.530_531delinsGTAAGTFs
1 paper
NM_000370.3
p.K177_K178delins
c.530_532delinsGTAAGT
2 papers
NM_000370.3
p.E161_Q164del4
c.481_491del12
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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."