Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.P70L

SERPINA7

130 papers

RefSeq Summary

There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloo...

Pfam Domains

Serpinaa 44–412UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family A member 7

HGNC Previous Symbol

TBG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000354.6
p.P70L
c.209C>T
Surrounding Variants
1 paper
NM_000354.6
p.I73M
c.219T>G
1 paper
NM_000354.6
p.S74Y
c.221C>A
1 paper
NM_000354.6
p.K64M
c.191A>T
1 paper
NM_000354.6
p.R56R
c.168G>A
1 paper
NM_000354.6
p.R55W
c.163C>T
1 paper
NM_000354.6
p.Y54insFs
c.161_162insG
2 papers
NM_000354.6
p.E91K
c.271G>A
2 papers
NM_000354.6
p.I92T
c.275T>C
1 paper
NM_000354.6
p.A47A
c.141T>G
1 paper
NM_000354.6
p.V93L
c.277G>T
1 paper
NM_000354.6
p.V93L
c.277G>C
1 paper
NM_000354.6
p.A47D
c.140C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."