Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.N264K

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.N264K
c.792T>G
Surrounding Variants
1 paper
NM_000354.6
p.N264K
c.792T>A
1 paper
NM_000354.6
p.F269fs
c.805_806fs
1 paper
NM_000354.6
p.F269C
c.806T>G
1 paper
NM_000354.6
p.F269delFs
c.806_807delAA
1 paper
NM_000354.6
p.L271H
c.812T>A
1 paper
NM_000354.6
p.C254R
c.760T>C
1 paper
NM_000354.6
p.L252F
c.756G>T
1 paper
NM_000354.6
p.L252F
c.756G>C
1 paper
NM_000354.6
p.S279A
c.835T>G
1 paper
NM_000354.6
p.H246Q
c.738C>G
1 paper
NM_000354.6
p.M284I
c.852G>T
1 paper
NM_000354.6
p.M284I
c.852G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."