Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V48L

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.V48L
c.142G>C
Surrounding Variants
8 papers
NM_000371.4
p.V48M
c.142G>A
2 papers
NM_000371.4
p.V48L
c.142G>T
6 papers
NM_000371.4
p.N47S
c.140A>G
1 paper
NM_000371.4
p.N47H
c.139A>C
1 paper
NM_000371.4
p.N47D
c.139A>G
1 paper
NM_000371.4
p.I46I
c.138C>T
2 papers
NM_000371.4
p.I46V
c.136A>G
2 papers
NM_000371.4
p.I46F
c.136A>T
456 papers
NM_000371.4
p.V50M
c.148G>A
13 papers
NM_000371.4
p.V50L
c.148G>C
16 papers
NM_000371.4
p.V50L
c.148G>T
1 paper
NM_000371.4
p.A45_I46Fs
c.134_136delinsCCFs
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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."