Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E147A

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.E147A
c.440A>C
Surrounding Variants
2 papers
NM_000371.4
p.E147D
c.441A>C
2 papers
NM_000371.4
p.E147D
c.441A>T
1 paper
NM_000371.4
p.E147*
c.439G>T
1 paper
NM_000371.4
p.E147delFs
c.440delA
2 papers
NM_000371.4
p.K146R
c.437A>G
1 paper
NM_000371.4
p.P145H
c.434C>A
1 paper
NM_000371.4
p.P145R
c.434C>G
1 paper
NM_000371.4
p.P145S
c.433C>T
6 papers
NM_000371.4
p.N144S
c.431A>G
2 papers
NM_000371.4
p.N144D
c.430A>G
1 paper
NM_000371.4
p.T143T
c.429C>T
1 paper
NM_000371.4
p.T143S
c.428C>G
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