Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.R54R

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
2 papers
NM_000371.4
p.R54R
c.162A>G
Surrounding Variants
4 papers
NM_000371.4
p.R54S
c.162A>C
4 papers
NM_000371.4
p.R54S
c.162A>T
15 papers
NM_000371.4
p.R54T
c.161G>C
9 papers
NM_000371.4
p.K55T
c.164A>C
1 paper
NM_000371.4
p.R54R
c.160A>C
20 papers
NM_000371.4
p.R54G
c.160A>G
1 paper
NM_000371.4
p.K55R
c.164A>G
23 papers
NM_000371.4
p.F53L
c.159C>A
23 papers
NM_000371.4
p.F53L
c.159C>G
17 papers
NM_000371.4
p.K55N
c.165G>C
17 papers
NM_000371.4
p.K55N
c.165G>T
19 papers
NM_000371.4
p.A56P
c.166G>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."