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.G689A

c.2066G>C

Surrounding Variants

1 paper

NM_000044.6

p.H690_D691del2

c.2068_2072del6

1 paper

NM_000044.6

p.G689R

c.2065G>A

1 paper

NM_000044.6

p.G689_H690insFs

c.2066_2070dup5

1 paper

NM_000044.6

p.G689*

c.2065G>T

3 papers

NM_000044.6

p.D691del1

c.2071_2072delGAC

3 papers

NM_000044.6

p.H690P

c.2069A>C

1 paper

NM_000044.6

p.H690R

c.2069A>G

1 paper

NM_000044.6

p.A688D

c.2063C>A

1 paper

NM_000044.6

p.H690Q

c.2070C>A

1 paper

NM_000044.6

p.H690Q

c.2070C>G

1 paper

NM_000044.6

p.H690H

c.2070C>T

2 papers

NM_000044.6

p.N693del1

c.2077_2078delAAC