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.L181L

c.543T>A

Surrounding Variants

2 papers

NM_000044.6

p.K182R

c.545A>G

1 paper

NM_000044.6

p.L181del1

c.541_543delCTT

1 paper

NM_000044.6

p.D183N

c.547G>A

2 papers

NM_000044.6

p.D183_I184delFs

c.549_550delCA

1 paper

NM_000044.6

p.D183E

c.549C>A

1 paper

NM_000044.6

p.D183E

c.549C>G

1 paper

NM_000044.6

p.I184delFs

c.550delA

2 papers

NM_000044.6

p.I184fs

c.550_551fs

1 paper

NM_000044.6

p.A179D

c.536C>A

1 paper

NM_000044.6

p.A179V

c.536C>T

1 paper

NM_000044.6

p.A179T

c.535G>A

1 paper

NM_000044.6

p.A179_D180ins6

c.535_539ins18