Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.F53L

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
26 papers
NM_000371.4
p.F53L
c.157T>C
Surrounding Variants
3 papers
NM_000371.4
p.F53I
c.157T>A
11 papers
NM_000371.4
p.F53V
c.157T>G
4 papers
NM_000371.4
p.F53C
c.158T>G
23 papers
NM_000371.4
p.F53L
c.159C>A
23 papers
NM_000371.4
p.F53L
c.159C>G
13 papers
NM_000371.4
p.V52A
c.155T>C
2 papers
NM_000371.4
p.V52G
c.155T>G
1 paper
NM_000371.4
p.R54R
c.160A>C
20 papers
NM_000371.4
p.R54G
c.160A>G
15 papers
NM_000371.4
p.R54T
c.161G>C
4 papers
NM_000371.4
p.R54S
c.162A>C
1 paper
NM_000371.4
p.H51P
c.152A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."