Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.T23_G24Splc

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.T23_G24Splc
c.69+5G>C
Surrounding Variants
1 paper
NM_000371.4
p.T23T
c.69G>A
4 papers
NM_000371.4
p.T23M
c.68C>T
2 papers
NM_000371.4
p.T23P
c.67A>C
2 papers
NM_000371.4
p.P22H
c.65C>A
2 papers
NM_000371.4
p.P22L
c.65C>T
1 paper
NM_000371.4
p.P22S
c.64C>T
2 papers
NM_000371.4
p.G21D
c.62G>A
2 papers
NM_000371.4
p.G21A
c.62G>C
1 paper
NM_000371.4
p.G21V
c.62G>T
3 papers
NM_000371.4
p.G21S
c.61G>A
202 papers
NM_000371.4
p.A20A
c.60T>A
1 paper
NM_000371.4
p.A20T
c.58G>A
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