Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A12T

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
3 papers
NM_000371.4
p.A12T
c.34G>A
Surrounding Variants
2 papers
NM_000371.4
p.A12P
c.34G>C
3 papers
NM_000371.4
p.A12S
c.34G>T
1 paper
NM_000371.4
p.A12D
c.35C>A
1 paper
NM_000371.4
p.A12V
c.35C>T
1 paper
NM_000371.4
p.L11delins
c.32delinsG
2 papers
NM_000371.4
p.L11F
c.31C>T
3 papers
NM_000371.4
p.G13R
c.37G>A
3 papers
NM_000371.4
p.G13R
c.37G>C
1 paper
NM_000371.4
p.C10*
c.30C>A
1 paper
NM_000371.4
p.C10W
c.30C>G
1 paper
NM_000371.4
p.C10C
c.30C>T
2 papers
NM_000371.4
p.G13V
c.38G>T
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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."