Varaico: Literature-Extracted Genetic Variants

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

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.V132M

c.394G>A

Surrounding Variants

1 paper

NM_001040.5

p.V132fs

c.394_395fs

1 paper

NM_001040.5

p.V132insFs

c.395_396ins4

1 paper

NM_001040.5

p.E133K

c.397G>A

1 paper

NM_001040.5

p.E133D

c.399A>C

1 paper

NM_001040.5

p.E133D

c.399A>T

1 paper

NM_001040.5

p.V134A

c.401T>C

2 papers

NM_001040.5

p.D139N

c.415G>A

1 paper

NM_001040.5

p.D139H

c.415G>C

1 paper

NM_001040.5

p.V141A

c.422T>C

1 paper

NM_001040.5

p.V141V

c.423G>A

1 paper

NM_001040.5

p.L143V

c.427C>G

1 paper

NM_001040.5

p.D146A

c.437A>C