Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V36L

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
2 papers
NM_000371.4
p.V36L
c.106G>C
Surrounding Variants
1 paper
NM_000371.4
p.V36I
c.106G>A
47 papers
NM_000371.4
p.K35N
c.105A>C
1 paper
NM_000371.4
p.K35K
c.105A>G
47 papers
NM_000371.4
p.K35N
c.105A>T
1 paper
NM_000371.4
p.V36A
c.107T>C
30 papers
NM_000371.4
p.K35T
c.104A>C
1 paper
NM_000371.4
p.L37del1
c.109_110delCTA
1 paper
NM_000371.4
p.K35Q
c.103A>C
1 paper
NM_000371.4
p.V34A
c.101T>C
19 papers
NM_000371.4
p.D38N
c.112G>A
1 paper
NM_000371.4
p.V34I
c.100G>A
3 papers
NM_000371.4
p.D38H
c.112G>C
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