Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA7
Variant:p.L372delFs

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.L372delFs
c.1114delG
Surrounding Variants
2 papers
NM_000354.6
p.L372fs
c.1114_1115fs
1 paper
NM_000354.6
p.S373L
c.1118C>T
1 paper
NM_000354.6
p.L381_H382ins16
c.1141_1145ins48
1 paper
NM_000354.6
p.I384V
c.1150A>G
1 paper
NM_000354.6
p.F391S
c.1172T>C
2 papers
NM_000354.6
p.K352M
c.1055A>T
1 paper
NM_000354.6
p.H351Y
c.1051C>T
1 paper
NM_000354.6
p.L404delFs
c.1211_1212delGA
2 papers
NM_000354.6
p.E414D
c.1242A>T
2 papers
NM_000354.6
p.E414D
c.1242A>C
1 paper
NM_000354.6
p.A415V
c.1244C>T
1 paper
NM_000354.6
p.N348_A349Splc
c.1044+5G>A
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