Varaico: Literature-Extracted Genetic Variants

Gene:SHBG
Variant:p.D399_H402del0

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.D399_H402del0
c.1196_1204del9
Surrounding Variants
1 paper
NM_001040.5
p.T398N
c.1193C>A
1 paper
NM_001040.5
p.T398S
c.1193C>G
1 paper
NM_001040.5
p.T398S
c.1192A>T
1 paper
NM_001040.5
p.G395_N396ins4
c.1183_1187ins12
1 paper
NM_001040.5
p.P391R
c.1172C>G
1 paper
NM_001040.5
p.H388Y
c.1162C>T
1 paper
NM_001040.5
p.H383L
c.1148A>T
1 paper
NM_001040.5
p.S382T
c.1145G>C
1 paper
NM_001040.5
p.R381T
c.1142G>C
1 paper
NM_001040.5
p.L379P
c.1136T>C
1 paper
NM_001040.5
p.Q377*
c.1129C>T
1 paper
NM_001040.5
p.D376N
c.1126G>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."