Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D58H

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
3 papers
NM_000371.4
p.D58H
c.172G>C
Surrounding Variants
3 papers
NM_000371.4
p.D58Y
c.172G>T
22 papers
NM_000371.4
p.D58A
c.173A>C
11 papers
NM_000371.4
p.D58V
c.173A>T
4 papers
NM_000371.4
p.A57D
c.170C>A
1 paper
NM_000371.4
p.A57G
c.170C>G
1 paper
NM_000371.4
p.D58E
c.174T>A
1 paper
NM_000371.4
p.D58E
c.174T>G
7 papers
NM_000371.4
p.A57T
c.169G>A
3 papers
NM_000371.4
p.D59Y
c.175G>T
1 paper
NM_000371.4
p.D59G
c.176A>G
4 papers
NM_000371.4
p.D59V
c.176A>T
4 papers
NM_000371.4
p.A56D
c.167C>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."