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.S53_Q69delFs

c.159_207del49

Surrounding Variants

1 paper

NM_000044.6

p.S53_L55ins1

c.157_165dup9

1 paper

NM_000044.6

p.A52T

c.154G>A

2 papers

NM_000044.6

p.A52S

c.154G>T

1 paper

NM_000044.6

p.S53C

c.157A>T

6 papers

NM_000044.6

p.S53N

c.158G>A

2 papers

NM_000044.6

p.G51D

c.152G>A

1 paper

NM_000044.6

p.S53T

c.158G>C

1 paper

NM_000044.6

p.G51S

c.151G>A

1 paper

NM_000044.6

p.G51R

c.151G>C

1 paper

NM_000044.6

p.G51insFs

c.151_152insC

2 papers

NM_000044.6

p.L57_Q58ins0

c.170_172dupTGC

1 paper

NM_000044.6

p.L54fs

c.160_161fs