Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L75P

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
30 papers
NM_000371.4
p.L75P
c.224T>C
Surrounding Variants
3 papers
NM_000371.4
p.L75Q
c.224T>A
14 papers
NM_000371.4
p.L75R
c.224T>G
2 papers
NM_000371.4
p.L75M
c.223C>A
1 paper
NM_000371.4
p.L75L
c.223C>T
1 paper
NM_000371.4
p.L75L
c.225G>C
2 papers
NM_000371.4
p.H76Y
c.226C>T
5 papers
NM_000371.4
p.E74D
c.222G>C
5 papers
NM_000371.4
p.E74D
c.222G>T
4 papers
NM_000371.4
p.E74A
c.221A>C
18 papers
NM_000371.4
p.E74G
c.221A>G
7 papers
NM_000371.4
p.H76R
c.227A>G
1 paper
NM_000371.4
p.E74V
c.221A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."