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.I232T

c.695T>C

Surrounding Variants

1 paper

NM_000044.6

p.I232N

c.695T>A

1 paper

NM_000044.6

p.I232I

c.696T>C

2 papers

NM_000044.6

p.S233F

c.698C>T

2 papers

NM_000044.6

p.D234_L239del6

c.700_716del18

1 paper

NM_000044.6

p.D234N

c.700G>A

1 paper

NM_000044.6

p.D234Y

c.700G>T

1 paper

NM_000044.6

p.D234A

c.701A>C

1 paper

NM_000044.6

p.S230insFs

c.689_690insA

1 paper

NM_000044.6

p.S230_T231delFs

c.690_691delGA

3 papers

NM_000044.6

p.D234E

c.702C>G

1 paper

NM_000044.6

p.S230P

c.688T>C

1 paper

NM_000044.6

p.S230_T231insA

c.688_692ins3