Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E92A

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.E92A
c.275A>C
Surrounding Variants
2 papers
NM_000371.4
p.E92G
c.275A>G
18 papers
NM_000371.4
p.E92K
c.274G>A
10 papers
NM_000371.4
p.I93V
c.277A>G
16 papers
NM_000371.4
p.V91A
c.272T>C
3 papers
NM_000371.4
p.K90N
c.270A>C
3 papers
NM_000371.4
p.K90N
c.270A>T
8 papers
NM_000371.4
p.D94H
c.280G>C
1 paper
NM_000371.4
p.K90R
c.269A>G
3 papers
NM_000371.4
p.K90Q
c.268A>C
4 papers
NM_000371.4
p.K90E
c.268A>G
1 paper
NM_000371.4
p.Y89Y
c.267C>T
1 paper
NM_000371.4
p.Y89C
c.266A>G
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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."