Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.S137A

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.S137A
c.409T>G
Surrounding Variants
2 papers
NM_000371.4
p.S137T
c.409T>A
1 paper
NM_000371.4
p.S137F
c.410C>T
8 papers
NM_000371.4
p.Y136S
c.407A>C
2 papers
NM_000371.4
p.Y136H
c.406T>C
2 papers
NM_000371.4
p.T138I
c.413C>T
2 papers
NM_000371.4
p.S135F
c.404C>T
1 paper
NM_000371.4
p.S135insFs
c.403_404insT
1 paper
NM_000371.4
p.T139R
c.416C>G
59 papers
NM_000371.4
p.T139M
c.416C>T
3 papers
NM_000371.4
p.Y134S
c.401A>C
44 papers
NM_000371.4
p.Y134C
c.401A>G
4 papers
NM_000371.4
p.T139T
c.417G>A
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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."