Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E86K

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.E86K
c.256G>A
Surrounding Variants
1 paper
NM_000371.4
p.E86Q
c.256G>C
1 paper
NM_000371.4
p.E86V
c.257A>T
3 papers
NM_000371.4
p.E86D
c.258A>C
3 papers
NM_000371.4
p.E86D
c.258A>T
1 paper
NM_000371.4
p.V85E
c.254T>A
1 paper
NM_000371.4
p.V85A
c.254T>C
1 paper
NM_000371.4
p.V85G
c.254T>G
7 papers
NM_000371.4
p.G87R
c.259G>A
2 papers
NM_000371.4
p.V85I
c.253G>A
7 papers
NM_000371.4
p.G87R
c.259G>C
3 papers
NM_000371.4
p.G87E
c.260G>A
1 paper
NM_000371.4
p.G87V
c.260G>T
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