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.A47V

c.140C>T

Surrounding Variants

1 paper

NM_000044.6

p.A47_A48insFs

c.141_144dup4

1 paper

NM_000044.6

p.A47insFs

c.140_141ins4

1 paper

NM_000044.6

p.A47A

c.141A>T

1 paper

NM_000044.6

p.A47_P50del0

c.141_149del9

1 paper

NM_000044.6

p.A47_L55del0

c.140_163del24

1 paper

NM_000044.6

p.S46S

c.138C>T

1 paper

NM_000044.6

p.A47_A48del1

c.140_142delCAG

1 paper

NM_000044.6

p.A48S

c.142G>T

1 paper

NM_000044.6

p.A48G

c.143C>G

1 paper

NM_000044.6

p.A48V

c.143C>T

1 paper

NM_000044.6

p.P49_L56del0

c.146_166del21

1 paper

NM_000044.6

p.P49T

c.145C>A