Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A117D

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.A117D
c.350C>A
Surrounding Variants
3 papers
NM_000371.4
p.A117G
c.350C>G
1 paper
NM_000371.4
p.A117V
c.350C>T
75 papers
NM_000371.4
p.A117S
c.349G>T
1 paper
NM_000371.4
p.N118S
c.353A>G
3 papers
NM_000371.4
p.T116R
c.347C>G
2 papers
NM_000371.4
p.N118N
c.354C>T
7 papers
NM_000371.4
p.D119N
c.355G>A
1 paper
NM_000371.4
p.D119A
c.356A>C
1 paper
NM_000371.4
p.F115S
c.344T>C
2 papers
NM_000371.4
p.D119E
c.357C>A
2 papers
NM_000371.4
p.D119E
c.357C>G
1 paper
NM_000371.4
p.V114V
c.342A>T
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