Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.R221W

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
12 papers
NM_000370.3
p.R221W
c.661C>T
Surrounding Variants
1 paper
NM_000370.3
p.R221_I222Splc
c.663+1G>A
1 paper
NM_000370.3
p.K219_E220insAT
c.655_659ins6
1 paper
NM_000370.3
p.P212Q
c.635C>A
1 paper
NM_000370.3
p.V206A
c.617T>C
1 paper
NM_000370.3
p.V206D
c.617T>A
1 paper
NM_000370.3
p.P200L
c.599C>T
1 paper
NM_000370.3
p.E199*
c.595G>T
1 paper
NM_000370.3
p.N198delFs
c.594delA
11 papers
NM_000370.3
p.R192H
c.575G>A
1 paper
NM_000370.3
p.R192C
c.574C>T
1 paper
NM_000370.3
p.D185Y
c.553G>T
3 papers
NM_000370.3
p.T184_D185Splc
c.553-1G>T
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