Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L78R

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
6 papers
NM_000371.4
p.L78R
c.233T>G
Surrounding Variants
24 papers
NM_000371.4
p.L78H
c.233T>A
3 papers
NM_000371.4
p.T79A
c.235A>G
1 paper
NM_000371.4
p.T79S
c.235A>T
20 papers
NM_000371.4
p.T79K
c.236C>A
2 papers
NM_000371.4
p.T79R
c.236C>G
1 paper
NM_000371.4
p.G77E
c.230G>A
6 papers
NM_000371.4
p.G77R
c.229G>A
5 papers
NM_000371.4
p.G77R
c.229G>C
1 paper
NM_000371.4
p.G77W
c.229G>T
121 papers
NM_000371.4
p.T80A
c.238A>G
2 papers
NM_000371.4
p.T80S
c.238A>T
7 papers
NM_000371.4
p.H76R
c.227A>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."