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.E43D

c.129G>C

Surrounding Variants

1 paper

NM_000044.6

p.E43D

c.129G>T

2 papers

NM_000044.6

p.E43A

c.128A>C

1 paper

NM_000044.6

p.A44delFs

c.130delG

1 paper

NM_000044.6

p.A44T

c.130G>A

1 paper

NM_000044.6

p.A44S

c.130G>T

1 paper

NM_000044.6

p.A44_S53del0

c.132_158del27

1 paper

NM_000044.6

p.E43K

c.127G>A

1 paper

NM_000044.6

p.E43insFs

c.127_128ins4

1 paper

NM_000044.6

p.A45_A48del0

c.133_144del12

5 papers

NM_000044.6

p.A45_S46ins6

c.133_137ins18

2 papers

NM_000044.6

p.A45G

c.134C>G

1 paper

NM_000044.6

p.P42A

c.124C>G