Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_000371.4
p.M1K
c.2T>A
1 paper
NM_000371.4
p.A2insFs
c.4dupG
1 paper
NM_000371.4
p.M1delFs
c.2delT
1 paper
NM_000371.4
p.M1_A2insFs
c.3_4insAC
1 paper
NM_000371.4
p.M1I
c.3G>T
1 paper
NM_000371.4
p.A2T
c.4G>A
3 papers
NM_000371.4
p.A2V
c.5C>T
1 paper
NM_000371.4
p.A2A
c.6T>C
2 papers
NM_000371.4
p.S3P
c.7T>C
2 papers
NM_000371.4
p.H4_R5ins0
c.11_13dupATC
1 paper
NM_000371.4
p.S3C
c.8C>G
1 paper
NM_000371.4
p.H4del1
c.10_11delCAT
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