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.E200V

c.599A>T

Surrounding Variants

1 paper

NM_000044.6

p.E200K

c.598G>A

1 paper

NM_000044.6

p.Q199Q

c.597G>A

2 papers

NM_000044.6

p.Q199H

c.597G>T

1 paper

NM_000044.6

p.E200_E204del0

c.598_612del15

1 paper

NM_000044.6

p.Q199P

c.596A>C

14 papers

NM_000044.6

p.Q199L

c.596A>T

3 papers

NM_000044.6

p.A201V

c.602C>T

1 paper

NM_000044.6

p.Q199*

c.595C>T

1 paper

NM_000044.6

p.V202I

c.604G>A

1 paper

NM_000044.6

p.V202insFs

c.604_605insA

3 papers

NM_000044.6

p.Q198K

c.592C>A

1 paper

NM_000044.6

p.Q198insFs

c.593_594insA