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.Q793_E794del1

c.2378_2380delAAG

Surrounding Variants

1 paper

NM_000044.6

p.Q793delFs

c.2378_2379delAA

1 paper

NM_000044.6

p.Q793fs

c.2377_2378fs

1 paper

NM_000044.6

p.Q793R

c.2378A>G

2 papers

NM_000044.6

p.S792P

c.2374T>C

5 papers

NM_000044.6

p.S792A

c.2374T>G

1 paper

NM_000044.6

p.L791L

c.2373C>T

2 papers

NM_000044.6

p.E794D

c.2382G>C

2 papers

NM_000044.6

p.E794D

c.2382G>T

1 paper

NM_000044.6

p.L791P

c.2372T>C

1 paper

NM_000044.6

p.L791I

c.2371C>A

2 papers

NM_000044.6

p.L791F

c.2371C>T

1 paper

NM_000044.6

p.F795L

c.2383T>C