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

2 papers

NM_000044.6

p.L174*

c.521T>G

Surrounding Variants

2 papers

NM_000044.6

p.L174*

c.521T>A

1 paper

NM_000044.6

p.L174_S175insTAG

c.520_524ins9

1 paper

NM_000044.6

p.L174_S175ins15

c.520_524ins45

1 paper

NM_000044.6

p.L174delFs

c.521delT

3 papers

NM_000044.6

p.S175N

c.524G>A

2 papers

NM_000044.6

p.G173_L174ins6

c.517_521ins18

1 paper

NM_000044.6

p.L174_S176del3

c.520_527del9

16 papers

NM_000044.6

p.S176R

c.526A>C

2 papers

NM_000044.6

p.S176fs

c.526_527fs

1 paper

NM_000044.6

p.P172P

c.516C>G

1 paper

NM_000044.6

p.G173delFs

c.518delG

2 papers

NM_000044.6

p.P172L

c.515C>T