Varaico: Literature-Extracted Genetic Variants

Gene:SHBG
Variant:p.R22_H23ins2

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.R22_H23ins2
c.66_67ins6
Surrounding Variants
1 paper
NM_001040.5
p.H23R
c.68A>G
1 paper
NM_001040.5
p.R22C
c.64C>T
1 paper
NM_001040.5
p.H23H
c.69C>T
1 paper
NM_001040.5
p.L21Q
c.62T>A
2 papers
NM_001040.5
p.R25C
c.73C>T
1 paper
NM_001040.5
p.L20Q
c.59T>A
1 paper
NM_001040.5
p.R25H
c.74G>A
1 paper
NM_001040.5
p.R25L
c.74G>T
1 paper
NM_001040.5
p.Q26*
c.76C>T
1 paper
NM_001040.5
p.L19P
c.56T>C
1 paper
NM_001040.5
p.L19L
c.55C>T
1 paper
NM_001040.5
p.Q26Q
c.78G>A
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