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.N706K

c.2118T>G

Surrounding Variants

2 papers

NM_000044.6

p.N706K

c.2118T>A

6 papers

NM_000044.6

p.N706S

c.2117A>G

2 papers

NM_000044.6

p.E707*

c.2119G>T

1 paper

NM_000044.6

p.E707G

c.2120A>G

1 paper

NM_000044.6

p.L708V

c.2122C>G

1 paper

NM_000044.6

p.L708delFs

c.2123delT

1 paper

NM_000044.6

p.L708fs

c.2122_2123fs

3 papers

NM_000044.6

p.L705F

c.2113C>T

1 paper

NM_000044.6

p.L708R

c.2123T>G

1 paper

NM_000044.6

p.S704R

c.2112C>A

1 paper

NM_000044.6

p.S704R

c.2112C>G

3 papers

NM_000044.6

p.G709R

c.2125G>A