Varaico: Literature-Extracted Genetic Variants

Gene:TTR

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
1–12 of 584 variants
456 papers
NM_000371.4
p.V50M
c.148G>A
431 papers
NM_000371.4
p.T60A
c.178A>G
374 papers
NM_000371.4
p.V142I
c.424G>A
229 papers
NM_000371.4
p.F64L
c.190T>C
229 papers
NM_000371.4
p.F64L
c.192T>A
229 papers
NM_000371.4
p.F64L
c.192T>G
202 papers
NM_000371.4
p.A20A
c.60T>A
121 papers
NM_000371.4
p.T80A
c.238A>G
84 papers
NM_000371.4
p.D38A
c.113A>C
75 papers
NM_000371.4
p.A117S
c.349G>T
73 papers
NM_000371.4
p.F84L
c.250T>C
70 papers
NM_000371.4
p.F64S
c.191T>C
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