Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E109Q

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
60 papers
NM_000371.4
p.E109Q
c.325G>C
Surrounding Variants
44 papers
NM_000371.4
p.E109K
c.325G>A
1 paper
NM_000371.4
p.E109G
c.326A>G
6 papers
NM_000371.4
p.E109V
c.326A>T
1 paper
NM_000371.4
p.H108Q
c.324T>A
1 paper
NM_000371.4
p.H108Q
c.324T>G
33 papers
NM_000371.4
p.H108R
c.323A>G
3 papers
NM_000371.4
p.E109D
c.327G>C
5 papers
NM_000371.4
p.E109D
c.327G>T
23 papers
NM_000371.4
p.H110N
c.328C>A
1 paper
NM_000371.4
p.H108N
c.322C>A
12 papers
NM_000371.4
p.H110D
c.328C>G
1 paper
NM_000371.4
p.H108D
c.322C>G
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."