Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D38Y

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.D38Y
c.112G>T
Surrounding Variants
19 papers
NM_000371.4
p.D38N
c.112G>A
3 papers
NM_000371.4
p.D38H
c.112G>C
84 papers
NM_000371.4
p.D38A
c.113A>C
29 papers
NM_000371.4
p.D38G
c.113A>G
24 papers
NM_000371.4
p.D38V
c.113A>T
10 papers
NM_000371.4
p.D38E
c.114T>A
6 papers
NM_000371.4
p.D38D
c.114T>C
10 papers
NM_000371.4
p.D38E
c.114T>G
1 paper
NM_000371.4
p.A39T
c.115G>A
1 paper
NM_000371.4
p.A39P
c.115G>C
1 paper
NM_000371.4
p.A39S
c.115G>T
1 paper
NM_000371.4
p.A39delFs
c.116delC
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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."