Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E81A

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.E81A
c.242A>C
Surrounding Variants
8 papers
NM_000371.4
p.E81G
c.242A>G
18 papers
NM_000371.4
p.E81K
c.241G>A
1 paper
NM_000371.4
p.E81E
c.243G>A
2 papers
NM_000371.4
p.E81D
c.243G>C
1 paper
NM_000371.4
p.E81Q
c.241G>C
2 papers
NM_000371.4
p.E81D
c.243G>T
9 papers
NM_000371.4
p.E82K
c.244G>A
1 paper
NM_000371.4
p.E82Q
c.244G>C
1 paper
NM_000371.4
p.E82G
c.245A>G
1 paper
NM_000371.4
p.E82V
c.245A>T
2 papers
NM_000371.4
p.T80N
c.239C>A
2 papers
NM_000371.4
p.T80S
c.239C>G
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