Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V40I

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
31 papers
NM_000371.4
p.V40I
c.118G>A
Surrounding Variants
1 paper
NM_000371.4
p.V40L
c.118G>C
3 papers
NM_000371.4
p.V40D
c.119T>A
5 papers
NM_000371.4
p.V40A
c.119T>C
14 papers
NM_000371.4
p.A39D
c.116C>A
1 paper
NM_000371.4
p.A39G
c.116C>G
1 paper
NM_000371.4
p.V40V
c.120C>T
1 paper
NM_000371.4
p.R41*
c.121C>T
1 paper
NM_000371.4
p.R41fs
c.121_122fs
1 paper
NM_000371.4
p.A39T
c.115G>A
1 paper
NM_000371.4
p.A39P
c.115G>C
1 paper
NM_000371.4
p.A39S
c.115G>T
1 paper
NM_000371.4
p.A39delFs
c.116delC
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