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

3 papers

NM_000044.6

p.W719*

c.2156G>A

Surrounding Variants

3 papers

NM_000044.6

p.W719*

c.2157G>A

2 papers

NM_000044.6

p.W719C

c.2157G>C

2 papers

NM_000044.6

p.W719C

c.2157G>T

2 papers

NM_000044.6

p.A720T

c.2158G>A

2 papers

NM_000044.6

p.K721E

c.2161A>G

1 paper

NM_000044.6

p.V717V

c.2151C>T

1 paper

NM_000044.6

p.A722delFs

c.2164delG

2 papers

NM_000044.6

p.A722T

c.2164G>A

1 paper

NM_000044.6

p.A722delFs

c.2166delC

1 paper

NM_000044.6

p.A722fs

c.2164_2165fs

1 paper

NM_000044.6

p.V716A

c.2147T>C

15 papers

NM_000044.6

p.V716M

c.2146G>A