Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V50M

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
456 papers
NM_000371.4
p.V50M
c.148G>A
Surrounding Variants
13 papers
NM_000371.4
p.V50L
c.148G>C
16 papers
NM_000371.4
p.V50L
c.148G>T
10 papers
NM_000371.4
p.V50A
c.149T>C
13 papers
NM_000371.4
p.V50G
c.149T>G
6 papers
NM_000371.4
p.H51N
c.151C>A
1 paper
NM_000371.4
p.H51P
c.152A>C
1 paper
NM_000371.4
p.H51L
c.152A>T
8 papers
NM_000371.4
p.V48M
c.142G>A
2 papers
NM_000371.4
p.V48L
c.142G>C
2 papers
NM_000371.4
p.V48L
c.142G>T
13 papers
NM_000371.4
p.V52A
c.155T>C
2 papers
NM_000371.4
p.V52G
c.155T>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."