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.L55L

c.163C>T

Surrounding Variants

1 paper

NM_000044.6

p.L55M

c.163C>A

1 paper

NM_000044.6

p.L55fs

c.163_164fs

2 papers

NM_000044.6

p.L55insFs

c.163_164insC

5 papers

NM_000044.6

p.L55Q

c.164T>A

1 paper

NM_000044.6

p.L55insFs

c.165dupG

4 papers

NM_000044.6

p.L54S

c.161T>C

1 paper

NM_000044.6

p.L56V

c.166C>G

1 paper

NM_000044.6

p.L56delFs

c.167delT

2 papers

NM_000044.6

p.L57_Q58ins0

c.170_172dupTGC

1 paper

NM_000044.6

p.L54fs

c.160_161fs

1 paper

NM_000044.6

p.L57_Q58del1

c.170_172delTGC

2 papers

NM_000044.6

p.L56Q

c.167T>A