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

1 paper

NM_000044.6

p.K17K

c.51G>A

Surrounding Variants

1 paper

NM_000044.6

p.K17N

c.51G>T

1 paper

NM_000044.6

p.K17R

c.50A>G

1 paper

NM_000044.6

p.T18S

c.52A>T

2 papers

NM_000044.6

p.K17E

c.49A>G

15 papers

NM_000044.6

p.K17*

c.49A>T

1 paper

NM_000044.6

p.T18S

c.53C>G

1 paper

NM_000044.6

p.Y19_R20del2

c.55_59del6

1 paper

NM_000044.6

p.S16Y

c.47C>A

6 papers

NM_000044.6

p.S16F

c.47C>T

1 paper

NM_000044.6

p.Y19_R20delFs

c.57_60del4

1 paper

NM_000044.6

p.Y19F

c.56A>T

3 papers

NM_000044.6

p.Y19_R20delFs

c.57_58delCC