Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.N348_A349Splc

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.N348_A349Splc
c.1044+5G>A
Surrounding Variants
1 paper
NM_000354.6
p.T339I
c.1016C>T
1 paper
NM_000354.6
p.G337R
c.1009G>A
1 paper
NM_000354.6
p.N332S
c.995A>G
1 paper
NM_000354.6
p.Y329F
c.986A>T
1 paper
NM_000354.6
p.I325V
c.973A>G
1 paper
NM_000354.6
p.G317R
c.949G>A
1 paper
NM_000354.6
p.I310fs
c.928_929fs
1 paper
NM_000354.6
p.S309delFs
c.927delG
17 papers
NM_000354.6
p.L303F
c.909G>T
15 papers
NM_000354.6
p.L303F
c.909G>C
1 paper
NM_000354.6
p.H351Y
c.1051C>T
2 papers
NM_000354.6
p.K352M
c.1055A>T
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