Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.Y244*

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.Y244*
c.732C>G
Surrounding Variants
1 paper
NM_000354.6
p.Y244*
c.732C>A
1 paper
NM_000354.6
p.Q243K
c.727C>A
1 paper
NM_000354.6
p.H246Q
c.738C>G
1 paper
NM_000354.6
p.M241I
c.723G>T
1 paper
NM_000354.6
p.M241I
c.723G>C
1 paper
NM_000354.6
p.M241I
c.723G>A
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.C254R
c.760T>C
2 papers
NM_000354.6
p.V235M
c.703G>A
1 paper
NM_000354.6
p.D228E
c.684C>G
1 paper
NM_000354.6
p.D228E
c.684C>A
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