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.Q78fs

c.232_233fs

Surrounding Variants

1 paper

NM_000044.6

p.Q78*

c.232C>T

2 papers

NM_000044.6

p.Q77Q

c.231G>A

1 paper

NM_000044.6

p.Q80insFs

c.239_240ins11

2 papers

NM_000044.6

p.Q77R

c.230A>G

1 paper

NM_000044.6

p.Q80insFs

c.239_240ins19

1 paper

NM_000044.6

p.Q77insFs

c.230_231insA

1 paper

NM_000044.6

p.Q77fs

c.229_230fs

3 papers

NM_000044.6

p.Q77*

c.229C>T

1 paper

NM_000044.6

p.Q79L

c.236A>T

1 paper

NM_000044.6

p.Q76Q

c.228G>A

1 paper

NM_000044.6

p.Q76R

c.227A>G

5 papers

NM_000044.6

p.Q80del1

c.238_239delCAA