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.G250R

c.748G>C

Surrounding Variants

3 papers

NM_000044.6

p.G250A

c.749G>C

1 paper

NM_000044.6

p.L249Q

c.746T>A

1 paper

NM_000044.6

p.L249V

c.745C>G

2 papers

NM_000044.6

p.V251M

c.751G>A

1 paper

NM_000044.6

p.V251L

c.751G>C

2 papers

NM_000044.6

p.V251L

c.751G>T

1 paper

NM_000044.6

p.V251delFs

c.753delG

2 papers

NM_000044.6

p.V251_E252delFs

c.753_754delGG

1 paper

NM_000044.6

p.G248D

c.743G>A

1 paper

NM_000044.6

p.G248V

c.743G>T

1 paper

NM_000044.6

p.E252Q

c.754G>C

1 paper

NM_000044.6

p.E252fs

c.754_755fs