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.I184delFs

c.550delA

Surrounding Variants

1 paper

NM_000044.6

p.D183E

c.549C>A

1 paper

NM_000044.6

p.D183E

c.549C>G

2 papers

NM_000044.6

p.I184fs

c.550_551fs

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.I184delins

c.551_552delinsCA

1 paper

NM_000044.6

p.I184I

c.552C>A

2 papers

NM_000044.6

p.K182R

c.545A>G

1 paper

NM_000044.6

p.L185L

c.553C>T

2 papers

NM_000044.6

p.L185P

c.554T>C

1 paper

NM_000044.6

p.L181L

c.543T>A

1 paper

NM_000044.6

p.S186R

c.556A>C