Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E71Q

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.E71Q
c.211G>C
Surrounding Variants
2 papers
NM_000371.4
p.E71K
c.211G>A
2 papers
NM_000371.4
p.E71A
c.212A>C
2 papers
NM_000371.4
p.E71G
c.212A>G
1 paper
NM_000371.4
p.E71V
c.212A>T
34 papers
NM_000371.4
p.S70R
c.210T>A
34 papers
NM_000371.4
p.S70R
c.210T>G
7 papers
NM_000371.4
p.S70N
c.209G>A
1 paper
NM_000371.4
p.E71D
c.213G>C
1 paper
NM_000371.4
p.E71_G73ins1
c.212_217dup6
17 papers
NM_000371.4
p.S70I
c.209G>T
1 paper
NM_000371.4
p.E71D
c.213G>T
34 papers
NM_000371.4
p.S70R
c.208A>C
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