Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V17A

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.V17A
c.50T>C
Surrounding Variants
2 papers
NM_000371.4
p.V17M
c.49G>A
2 papers
NM_000371.4
p.V17V
c.51G>A
1 paper
NM_000371.4
p.S18insFs
c.52dupT
1 paper
NM_000371.4
p.F16L
c.48T>A
1 paper
NM_000371.4
p.F16L
c.48T>G
1 paper
NM_000371.4
p.S18A
c.52T>G
1 paper
NM_000371.4
p.F16Y
c.47T>A
1 paper
NM_000371.4
p.F16L
c.46T>C
7 papers
NM_000371.4
p.V15V
c.45A>G
16 papers
NM_000371.4
p.V15V
c.45A>T
1 paper
NM_000371.4
p.E19A
c.56A>C
1 paper
NM_000371.4
p.V15I
c.43G>A
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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."