Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V142A

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
9 papers
NM_000371.4
p.V142A
c.425T>C
Surrounding Variants
374 papers
NM_000371.4
p.V142I
c.424G>A
3 papers
NM_000371.4
p.V142L
c.424G>C
2 papers
NM_000371.4
p.T143A
c.427A>G
1 paper
NM_000371.4
p.T143S
c.427A>T
1 paper
NM_000371.4
p.T143S
c.428C>G
2 papers
NM_000371.4
p.T143I
c.428C>T
1 paper
NM_000371.4
p.V141D
c.422T>A
1 paper
NM_000371.4
p.V141A
c.422T>C
1 paper
NM_000371.4
p.T143T
c.429C>T
2 papers
NM_000371.4
p.N144D
c.430A>G
10 papers
NM_000371.4
p.V142del1
c.424_425delGTC
6 papers
NM_000371.4
p.N144S
c.431A>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."