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

2 papers

NM_000044.6

p.E710K

c.2128G>A

Surrounding Variants

1 paper

NM_000044.6

p.G709V

c.2126G>T

1 paper

NM_000044.6

p.R711*

c.2131A>T

3 papers

NM_000044.6

p.G709R

c.2125G>A

1 paper

NM_000044.6

p.G709R

c.2125G>C

1 paper

NM_000044.6

p.E710_R711delFs

c.2129_2132del4

1 paper

NM_000044.6

p.R711K

c.2132G>A

2 papers

NM_000044.6

p.R711T

c.2132G>C

1 paper

NM_000044.6

p.L708R

c.2123T>G

3 papers

NM_000044.6

p.Q712E

c.2134C>G

1 paper

NM_000044.6

p.L708V

c.2122C>G

1 paper

NM_000044.6

p.Q712*

c.2134C>T

1 paper

NM_000044.6

p.Q712delFs

c.2135delA