Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.L102P

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
3 papers
NM_000371.4
p.L102P
c.305T>C
Surrounding Variants
1 paper
NM_000371.4
p.L102F
c.304C>T
17 papers
NM_000371.4
p.G103R
c.307G>C
1 paper
NM_000371.4
p.G103C
c.307G>T
18 papers
NM_000371.4
p.A101V
c.302C>T
6 papers
NM_000371.4
p.G103D
c.308G>A
8 papers
NM_000371.4
p.A101T
c.301G>A
3 papers
NM_000371.4
p.A101S
c.301G>T
1 paper
NM_000371.4
p.I104L
c.310A>C
1 paper
NM_000371.4
p.I104V
c.310A>G
1 paper
NM_000371.4
p.K100N
c.300G>C
1 paper
NM_000371.4
p.K100N
c.300G>T
1 paper
NM_000371.4
p.K100R
c.299A>G
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