Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D94H

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
8 papers
NM_000371.4
p.D94H
c.280G>C
Surrounding Variants
10 papers
NM_000371.4
p.I93V
c.277A>G
3 papers
NM_000371.4
p.T95I
c.284C>T
1 paper
NM_000371.4
p.E92A
c.275A>C
2 papers
NM_000371.4
p.E92G
c.275A>G
1 paper
NM_000371.4
p.K96E
c.286A>G
18 papers
NM_000371.4
p.E92K
c.274G>A
1 paper
NM_000371.4
p.K96R
c.287A>G
1 paper
NM_000371.4
p.K96I
c.287A>T
1 paper
NM_000371.4
p.S97_Y98del0
c.289_294del6
16 papers
NM_000371.4
p.V91A
c.272T>C
5 papers
NM_000371.4
p.S97T
c.289T>A
1 paper
NM_000371.4
p.S97A
c.289T>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."