Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.G121S

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
6 papers
NM_000371.4
p.G121S
c.361G>A
Surrounding Variants
2 papers
NM_000371.4
p.G121R
c.361G>C
1 paper
NM_000371.4
p.G121fs
c.361_362fs
4 papers
NM_000371.4
p.S120S
c.360C>T
1 paper
NM_000371.4
p.G121D
c.362G>A
1 paper
NM_000371.4
p.G121delFs
c.363delC
1 paper
NM_000371.4
p.G121G
c.363C>G
1 paper
NM_000371.4
p.S120F
c.359C>T
1 paper
NM_000371.4
p.S120T
c.358T>A
2 papers
NM_000371.4
p.S120A
c.358T>G
2 papers
NM_000371.4
p.D119E
c.357C>A
3 papers
NM_000371.4
p.P122R
c.365C>G
2 papers
NM_000371.4
p.D119E
c.357C>G
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