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.R128R

c.384A>G

Surrounding Variants

2 papers

NM_001040.5

p.R128*

c.382A>T

1 paper

NM_001040.5

p.D126A

c.377A>C

1 paper

NM_001040.5

p.Q131E

c.391C>G

1 paper

NM_001040.5

p.Q131_V132insFs

c.393_394insT

1 paper

NM_001040.5

p.D125A

c.374A>C

1 paper

NM_001040.5

p.D125V

c.374A>T

1 paper

NM_001040.5

p.Q131_V132Splc

c.393+2T>G

3 papers

NM_001040.5

p.L124L

c.372G>C

2 papers

NM_001040.5

p.L124M

c.370C>A

1 paper

NM_001040.5

p.R123Q

c.368G>A

1 paper

NM_001040.5

p.R123P

c.368G>C

1 paper

NM_001040.5

p.G121R

c.361G>A