Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V34I

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
1 paper
NM_000371.4
p.V34I
c.100G>A
Surrounding Variants
1 paper
NM_000371.4
p.V34L
c.100G>C
1 paper
NM_000371.4
p.M33I
c.99G>A
1 paper
NM_000371.4
p.M33I
c.99G>C
1 paper
NM_000371.4
p.M33I
c.99G>T
1 paper
NM_000371.4
p.V34A
c.101T>C
2 papers
NM_000371.4
p.M33T
c.98T>C
3 papers
NM_000371.4
p.M33R
c.98T>G
1 paper
NM_000371.4
p.V34insFs
c.100dupG
1 paper
NM_000371.4
p.K35Q
c.103A>C
11 papers
NM_000371.4
p.M33V
c.97A>G
30 papers
NM_000371.4
p.K35T
c.104A>C
47 papers
NM_000371.4
p.K35N
c.105A>C
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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."