Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.H110Q

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.H110Q
c.330T>G
Surrounding Variants
1 paper
NM_000371.4
p.H110Q
c.330T>A
2 papers
NM_000371.4
p.A111S
c.331G>T
23 papers
NM_000371.4
p.H110N
c.328C>A
12 papers
NM_000371.4
p.H110D
c.328C>G
3 papers
NM_000371.4
p.A111V
c.332C>T
3 papers
NM_000371.4
p.E109D
c.327G>C
5 papers
NM_000371.4
p.E109D
c.327G>T
1 paper
NM_000371.4
p.E109G
c.326A>G
6 papers
NM_000371.4
p.E109V
c.326A>T
10 papers
NM_000371.4
p.E112K
c.334G>A
1 paper
NM_000371.4
p.E112Q
c.334G>C
1 paper
NM_000371.4
p.E112G
c.335A>G
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