Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E27A

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.E27A
c.80A>C
Surrounding Variants
1 paper
NM_000371.4
p.E27V
c.80A>T
9 papers
NM_000371.4
p.E27D
c.81A>T
1 paper
NM_000371.4
p.E27K
c.79G>A
1 paper
NM_000371.4
p.E27*
c.79G>T
1 paper
NM_000371.4
p.S28Y
c.83C>A
1 paper
NM_000371.4
p.S28F
c.83C>T
1 paper
NM_000371.4
p.G26V
c.77G>T
46 papers
NM_000371.4
p.G26S
c.76G>A
19 papers
NM_000371.4
p.G26R
c.76G>C
1 paper
NM_000371.4
p.K29E
c.85A>G
1 paper
NM_000371.4
p.K29T
c.86A>C
1 paper
NM_000371.4
p.T25N
c.74C>A
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