Varaico: Literature-Extracted Genetic Variants

Gene:SHBG
Variant:p.W199*

SHBG

493 papers

RefSeq Summary

This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded pro...

Pfam Domains

Laminin_G_1aa 75–205UCSCLaminin G domain
Laminin_G_1aa 75–205UCSCLaminin G domain
Laminin_G_1aa 75–205UCSCLaminin G domain

Gene Aliases

HGNC Name

sex hormone binding globulin

HGNC Alias Symbols

ABP; TEBG; MGC126834; MGC138391

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040.5
p.W199*
c.597G>A
Surrounding Variants
1 paper
NM_001040.5
p.D201N
c.601G>A
1 paper
NM_001040.5
p.D201G
c.602A>G
1 paper
NM_001040.5
p.D197E
c.591T>A
1 paper
NM_001040.5
p.D197E
c.591T>G
1 paper
NM_001040.5
p.D197N
c.589G>A
1 paper
NM_001040.5
p.R196L
c.587G>T
1 paper
NM_001040.5
p.R196G
c.586C>G
1 paper
NM_001040.5
p.R195H
c.584G>A
1 paper
NM_001040.5
p.A204V
c.611C>T
1 paper
NM_001040.5
p.E205K
c.613G>A
1 paper
NM_001040.5
p.L194M
c.580C>A
1 paper
NM_001040.5
p.S207T
c.619T>A
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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."