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.L769V

c.2305C>G

Surrounding Variants

1 paper

NM_000044.6

p.L769M

c.2305C>A

4 papers

NM_000044.6

p.D768E

c.2304T>A

3 papers

NM_000044.6

p.L769P

c.2306T>C

4 papers

NM_000044.6

p.D768E

c.2304T>G

3 papers

NM_000044.6

p.D768Y

c.2302G>T

4 papers

NM_000044.6

p.D768fs

c.2302_2303fs

1 paper

NM_000044.6

p.D768_L769delFs

c.2303_2306del4

6 papers

NM_000044.6

p.P767delFs

c.2301delT

4 papers

NM_000044.6

p.P767A

c.2299C>G

4 papers

NM_000044.6

p.P767S

c.2299C>T

1 paper

NM_000044.6

p.P767fs

c.2299_2300fs

1 paper

NM_000044.6

p.F771L

c.2311T>C