Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.S70R

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
34 papers
NM_000371.4
p.S70R
c.208A>C
Surrounding Variants
3 papers
NM_000371.4
p.S70G
c.208A>G
2 papers
NM_000371.4
p.S70C
c.208A>T
1 paper
NM_000371.4
p.T69T
c.207C>G
7 papers
NM_000371.4
p.S70N
c.209G>A
1 paper
NM_000371.4
p.E71_G73ins1
c.212_217dup6
17 papers
NM_000371.4
p.S70I
c.209G>T
6 papers
NM_000371.4
p.T69S
c.206C>G
14 papers
NM_000371.4
p.T69I
c.206C>T
34 papers
NM_000371.4
p.S70R
c.210T>A
34 papers
NM_000371.4
p.S70R
c.210T>G
8 papers
NM_000371.4
p.T69P
c.205A>C
20 papers
NM_000371.4
p.T69A
c.205A>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."