Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L131Q

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.L131Q
c.392T>A
Surrounding Variants
26 papers
NM_000371.4
p.L131M
c.391C>A
1 paper
NM_000371.4
p.S132insFs
c.394_395insC
1 paper
NM_000371.4
p.S132fs
c.394_395fs
1 paper
NM_000371.4
p.L130L
c.390G>A
2 papers
NM_000371.4
p.S132I
c.395G>T
1 paper
NM_000371.4
p.P133T
c.397C>A
1 paper
NM_000371.4
p.Y134_T138del5
c.400_413del15
10 papers
NM_000371.4
p.A129V
c.386C>T
16 papers
NM_000371.4
p.A129T
c.385G>A
5 papers
NM_000371.4
p.A129S
c.385G>T
1 paper
NM_000371.4
p.A128A
c.384C>T
1 paper
NM_000371.4
p.Y134N
c.400T>A
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