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.S321*

c.962C>A

Surrounding Variants

1 paper

NM_001040.5

p.S321W

c.962C>G

1 paper

NM_001040.5

p.K322*

c.964A>T

1 paper

NM_001040.5

p.Q319P

c.956A>C

1 paper

NM_001040.5

p.L317L

c.951G>A

1 paper

NM_001040.5

p.L326V

c.976C>G

1 paper

NM_001040.5

p.L326R

c.977T>G

1 paper

NM_001040.5

p.P329Fs

c.985_987delinsAAFs

1 paper

NM_001040.5

p.G332D

c.995G>A

1 paper

NM_001040.5

p.L310P

c.929T>C

1 paper

NM_001040.5

p.K309M

c.926A>T

1 paper

NM_001040.5

p.A334S

c.1000G>T

1 paper

NM_001040.5

p.P305S

c.913C>T