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.R76L

c.227G>T

Surrounding Variants

1 paper

NM_001040.5

p.T77A

c.229A>G

1 paper

NM_001040.5

p.T77I

c.230C>T

1 paper

NM_001040.5

p.V75D

c.224T>A

1 paper

NM_001040.5

p.E74Q

c.220G>C

1 paper

NM_001040.5

p.E74insFs

c.221_222ins4

1 paper

NM_001040.5

p.D79N

c.235G>A

1 paper

NM_001040.5

p.F73L

c.217T>C

1 paper

NM_001040.5

p.P80R

c.239C>G

1 paper

NM_001040.5

p.P80P

c.240A>T

1 paper

NM_001040.5

p.S72A

c.214T>G

1 paper

NM_001040.5

p.E81A

c.242A>C

1 paper

NM_001040.5

p.S71Y

c.212C>A