Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.L14R

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
3 papers
NM_000354.6
p.L14R
c.41T>G
Surrounding Variants
1 paper
NM_000354.6
p.L14H
c.41T>A
1 paper
NM_000354.6
p.A16V
c.47C>T
1 paper
NM_000354.6
p.L10F
c.30G>T
1 paper
NM_000354.6
p.L10F
c.30G>C
2 papers
NM_000354.6
p.H19Y
c.55C>T
2 papers
NM_000354.6
p.V8F
c.22G>T
1 paper
NM_000354.6
p.A21V
c.62C>T
1 paper
NM_000354.6
p.L5Q
c.14T>A
1 paper
NM_000354.6
p.P23H
c.68C>A
1 paper
NM_000354.6
p.S2_P3insT
c.4_8ins3
1 paper
NM_000354.6
p.M1insFs
c.2_3insT
1 paper
NM_000354.6
p.M1L
c.1A>T
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