Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.E248delFs

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
51 papers
NM_000370.3
p.E248delFs
c.744delT
Surrounding Variants
7 papers
NM_000370.3
p.E249fs
c.745_746fs
1 paper
NM_000370.3
p.E248fs
c.742_743fs
2 papers
NM_000370.3
p.E249fs
c.745_746fs
4 papers
NM_000370.3
p.G246R
c.736G>C
1 paper
NM_000370.3
p.M252L
c.754A>T
1 paper
NM_000370.3
p.M252L
c.754A>C
2 papers
NM_000370.3
p.D239delFs
c.717delG
1 paper
NM_000370.3
p.D239fs
c.715_716fs
2 papers
NM_000370.3
p.H236fs
c.706_707fs
3 papers
NM_000370.3
p.H236delFs
c.706delG
2 papers
NM_000370.3
p.N227_Q235del9
c.679_704del27
1 paper
NM_000370.3
p.K265fs
c.793_794fs
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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."