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.C131R

c.391T>C

Surrounding Variants

1 paper

NM_000044.6

p.C131Y

c.392G>A

1 paper

NM_000044.6

p.C131F

c.392G>T

1 paper

NM_000044.6

p.C131*

c.393C>A

2 papers

NM_000044.6

p.G130D

c.389G>A

1 paper

NM_000044.6

p.G130V

c.389G>T

2 papers

NM_000044.6

p.V132I

c.394G>A

1 paper

NM_000044.6

p.G130fs

c.388_389fs

1 paper

NM_000044.6

p.V132V

c.396C>T

1 paper

NM_000044.6

p.R129delFs

c.387delA

2 papers

NM_000044.6

p.R129*

c.385A>T

9 papers

NM_000044.6

p.P133S

c.397C>T

1 paper

NM_000044.6

p.P133R

c.398C>G