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

1 paper

NM_000044.6

p.H690R

c.2069A>G

Surrounding Variants

3 papers

NM_000044.6

p.H690P

c.2069A>C

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

3 papers

NM_000044.6

p.D691del1

c.2071_2072delGAC

1 paper

NM_000044.6

p.H690_D691del2

c.2068_2072del6

2 papers

NM_000044.6

p.N693del1

c.2077_2078delAAC

1 paper

NM_000044.6

p.D691G

c.2072A>G

3 papers

NM_000044.6

p.D691V

c.2072A>T

2 papers

NM_000044.6

p.G689A

c.2066G>C

3 papers

NM_000044.6

p.D691E

c.2073C>A

3 papers

NM_000044.6

p.D691E

c.2073C>G