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.D394E

c.1182C>A

Surrounding Variants

1 paper

NM_000044.6

p.D394H

c.1180G>C

5 papers

NM_000044.6

p.G396R

c.1186G>C

1 paper

NM_000044.6

p.L393L

c.1177C>T

1 paper

NM_000044.6

p.P392P

c.1176G>A

1 paper

NM_000044.6

p.S397R

c.1189A>C

1 paper

NM_000044.6

p.S397G

c.1189A>G

1 paper

NM_000044.6

p.S397delFs

c.1190_1191delGC

2 papers

NM_000044.6

p.P392R

c.1175C>G

1 paper

NM_000044.6

p.P392L

c.1175C>T

27 papers

NM_000044.6

p.P392S

c.1174C>T

1 paper

NM_000044.6

p.S397N

c.1190G>A

1 paper

NM_000044.6

p.S397R

c.1191C>A