Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.R124C

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
16 papers
NM_000371.4
p.R124C
c.370C>T
Surrounding Variants
1 paper
NM_000371.4
p.R124_L130del7
c.370_389del21
18 papers
NM_000371.4
p.R124H
c.371G>A
1 paper
NM_000371.4
p.R124R
c.372C>G
8 papers
NM_000371.4
p.R123H
c.368G>A
1 paper
NM_000371.4
p.R123S
c.367C>A
1 paper
NM_000371.4
p.R123G
c.367C>G
2 papers
NM_000371.4
p.R123C
c.367C>T
2 papers
NM_000371.4
p.Y125H
c.373T>C
3 papers
NM_000371.4
p.P122R
c.365C>G
2 papers
NM_000371.4
p.P122L
c.365C>T
6 papers
NM_000371.4
p.T126N
c.377C>A
1 paper
NM_000371.4
p.G121G
c.363C>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."