Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A129S

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
5 papers
NM_000371.4
p.A129S
c.385G>T
Surrounding Variants
16 papers
NM_000371.4
p.A129T
c.385G>A
10 papers
NM_000371.4
p.A129V
c.386C>T
1 paper
NM_000371.4
p.A128A
c.384C>T
3 papers
NM_000371.4
p.A128V
c.383C>T
1 paper
NM_000371.4
p.A128T
c.382G>A
2 papers
NM_000371.4
p.I127I
c.381T>C
15 papers
NM_000371.4
p.I127M
c.381T>G
1 paper
NM_000371.4
p.L130L
c.390G>A
1 paper
NM_000371.4
p.I127N
c.380T>A
1 paper
NM_000371.4
p.I127T
c.380T>C
51 papers
NM_000371.4
p.I127V
c.379A>G
12 papers
NM_000371.4
p.I127F
c.379A>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."