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

4 papers

NM_000044.6

p.R789S

c.2367G>C

Surrounding Variants

4 papers

NM_000044.6

p.R789S

c.2367G>T

1 paper

NM_000044.6

p.H790Y

c.2368C>T

1 paper

NM_000044.6

p.H790fs

c.2368_2369fs

1 paper

NM_000044.6

p.R789K

c.2366G>A

1 paper

NM_000044.6

p.R789T

c.2366G>C

2 papers

NM_000044.6

p.H790insFs

c.2369_2370insG

1 paper

NM_000044.6

p.R789G

c.2365A>G

1 paper

NM_000044.6

p.H790R

c.2369A>G

1 paper

NM_000044.6

p.H790Fs

c.2369_2370delinsTGGFs

1 paper

NM_000044.6

p.R789fs

c.2365_2366fs

1 paper

NM_000044.6

p.R789_H790insFs

c.2365_2368dup4

1 paper

NM_000044.6

p.L791I

c.2371C>A