Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.I46F

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
2 papers
NM_000371.4
p.I46F
c.136A>T
Surrounding Variants
2 papers
NM_000371.4
p.I46V
c.136A>G
1 paper
NM_000371.4
p.A45_I46Fs
c.134_136delinsCCFs
31 papers
NM_000371.4
p.A45D
c.134C>A
13 papers
NM_000371.4
p.A45G
c.134C>G
7 papers
NM_000371.4
p.A45V
c.134C>T
1 paper
NM_000371.4
p.I46I
c.138C>T
1 paper
NM_000371.4
p.N47H
c.139A>C
1 paper
NM_000371.4
p.N47D
c.139A>G
56 papers
NM_000371.4
p.A45T
c.133G>A
44 papers
NM_000371.4
p.A45S
c.133G>T
1 paper
NM_000371.4
p.A45_I46delFs
c.134_138del5
6 papers
NM_000371.4
p.N47S
c.140A>G
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