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.G448E

c.1343G>A

Surrounding Variants

1 paper

NM_000044.6

p.G448_P449insFs

c.1344_1345insTA

1 paper

NM_000044.6

p.G448_P449insGG

c.1342_1346ins6

1 paper

NM_000044.6

p.G448*

c.1342G>T

1 paper

NM_000044.6

p.Y447D

c.1339T>G

1 paper

NM_000044.6

p.G453_G454del1

c.1359_1361delTGG

2 papers

NM_000044.6

p.L446S

c.1337T>C

1 paper

NM_000044.6

p.L446delFs

c.1338delG

1 paper

NM_000044.6

p.G451delFs

c.1351delG

1 paper

NM_000044.6

p.L446fs

c.1336_1337fs

2 papers

NM_000044.6

p.G451R

c.1351G>C

1 paper

NM_000044.6

p.L446insFs

c.1337dupT

1 paper

NM_000044.6

p.G451_G452delFs

c.1352_1356del5