Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L8H

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.L8H
c.23T>A
Surrounding Variants
1 paper
NM_000371.4
p.L8I
c.22C>A
2 papers
NM_000371.4
p.L8F
c.22C>T
2 papers
NM_000371.4
p.L7L
c.21C>A
2 papers
NM_000371.4
p.L9I
c.25C>A
1 paper
NM_000371.4
p.L9F
c.25C>T
1 paper
NM_000371.4
p.L7I
c.19C>A
1 paper
NM_000371.4
p.L7V
c.19C>G
1 paper
NM_000371.4
p.L7F
c.19C>T
1 paper
NM_000371.4
p.L9L
c.27C>T
1 paper
NM_000371.4
p.L6L
c.18G>A
3 papers
NM_000371.4
p.L6L
c.18G>C
1 paper
NM_000371.4
p.L6L
c.18G>T
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