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

15 papers

NM_000044.6

p.V716M

c.2146G>A

Surrounding Variants

1 paper

NM_000044.6

p.V716L

c.2146G>C

1 paper

NM_000044.6

p.V716L

c.2146G>T

1 paper

NM_000044.6

p.V716A

c.2147T>C

2 papers

NM_000044.6

p.H715N

c.2143C>A

1 paper

NM_000044.6

p.H715Y

c.2143C>T

1 paper

NM_000044.6

p.V717V

c.2151C>T

1 paper

NM_000044.6

p.V714G

c.2141T>G

1 paper

NM_000044.6

p.V714_H715del2

c.2140_2144del6

1 paper

NM_000044.6

p.L713P

c.2138T>C

1 paper

NM_000044.6

p.L713V

c.2137C>G

3 papers

NM_000044.6

p.L713F

c.2137C>T

3 papers

NM_000044.6

p.W719*

c.2156G>A