Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.G42D

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.G42D
c.125G>A
Surrounding Variants
2 papers
NM_000371.4
p.G42A
c.125G>C
1 paper
NM_000371.4
p.G42S
c.124G>A
1 paper
NM_000371.4
p.G42R
c.124G>C
2 papers
NM_000371.4
p.S43R
c.127A>C
1 paper
NM_000371.4
p.S43C
c.127A>T
1 paper
NM_000371.4
p.G42_P44delFs
c.124_130del7
36 papers
NM_000371.4
p.S43N
c.128G>A
9 papers
NM_000371.4
p.R41Q
c.122G>A
1 paper
NM_000371.4
p.R41*
c.121C>T
1 paper
NM_000371.4
p.R41fs
c.121_122fs
2 papers
NM_000371.4
p.S43R
c.129T>A
2 papers
NM_000371.4
p.S43R
c.129T>G
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