Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.I88T

TTR

1,821 papers

RefSeq Summary

This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transp...

Pfam Domains

Transthyretinaa 32–139UCSCHIUase/Transthyretin family

Gene Aliases

HGNC Name

transthyretin

HGNC Previous Symbol

CTS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000371.4
p.I88T
c.263T>C
Surrounding Variants
1 paper
NM_000371.4
p.I88R
c.263T>G
67 papers
NM_000371.4
p.I88L
c.262A>C
68 papers
NM_000371.4
p.I88L
c.262A>T
20 papers
NM_000371.4
p.Y89H
c.265T>C
1 paper
NM_000371.4
p.Y89C
c.266A>G
1 paper
NM_000371.4
p.Y89F
c.266A>T
3 papers
NM_000371.4
p.G87E
c.260G>A
1 paper
NM_000371.4
p.G87V
c.260G>T
1 paper
NM_000371.4
p.Y89Y
c.267C>T
7 papers
NM_000371.4
p.G87R
c.259G>A
7 papers
NM_000371.4
p.G87R
c.259G>C
3 papers
NM_000371.4
p.E86D
c.258A>C
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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."