Varaico: Literature-Extracted Genetic Variants

AR

3,446 papers

RefSeq Summary

The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein func...

Pfam Domains

Androgen_recepaa 6–449UCSCAndrogen receptor

zf-C4aa 558–627UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 690–881UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

androgen receptor

HGNC Previous Symbols

DHTR; SBMA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000044.6

p.Q72*

c.214C>T

Surrounding Variants

6 papers

NM_000044.6

p.Q72K

c.214C>A

1 paper

NM_000044.6

p.Q72ins1

c.215_216insGCG

3 papers

NM_000044.6

p.Q72R

c.215A>G

2 papers

NM_000044.6

p.Q72L

c.215A>T

6 papers

NM_000044.6

p.Q71R

c.212A>G

1 paper

NM_000044.6

p.Q72H

c.216G>C

1 paper

NM_000044.6

p.Q73insFs

c.217_218insC

1 paper

NM_000044.6

p.Q73insFs

c.218_219insA

4 papers

NM_000044.6

p.Q71*

c.211C>T

2 papers

NM_000044.6

p.Q73*

c.217C>T

1 paper

NM_000044.6

p.Q73delFs

c.218delA

1 paper

NM_000044.6

p.Q73R

c.218A>G