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

60 papers

NM_000044.6

p.L702H

c.2105T>A

Surrounding Variants

2 papers

NM_000044.6

p.L702P

c.2105T>C

1 paper

NM_000044.6

p.L702delins

c.2105_2106delinsAT

2 papers

NM_000044.6

p.L702I

c.2104C>A

2 papers

NM_000044.6

p.L702F

c.2104C>T

3 papers

NM_000044.6

p.L701F

c.2103G>C

3 papers

NM_000044.6

p.L701F

c.2103G>T

3 papers

NM_000044.6

p.S703P

c.2107T>C

2 papers

NM_000044.6

p.S703A

c.2107T>G

1 paper

NM_000044.6

p.S703Y

c.2108C>A

2 papers

NM_000044.6

p.S703F

c.2108C>T

5 papers

NM_000044.6

p.L701M

c.2101T>A

1 paper

NM_000044.6

p.L701fs

c.2101_2102fs