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.P127S

c.379C>T

Surrounding Variants

1 paper

NM_000044.6

p.P127_E128ins1

c.381_382insATC

2 papers

NM_000044.6

p.P127R

c.380C>G

9 papers

NM_000044.6

p.P127L

c.380C>T

2 papers

NM_000044.6

p.H126R

c.377A>G

1 paper

NM_000044.6

p.P127delFs

c.381delC

1 paper

NM_000044.6

p.E128K

c.382G>A

1 paper

NM_000044.6

p.E128*

c.382G>T

1 paper

NM_000044.6

p.E128fs

c.382_383fs

1 paper

NM_000044.6

p.E128A

c.383A>C

2 papers

NM_000044.6

p.C125W

c.375C>G

1 paper

NM_000044.6

p.E128E

c.384G>A

1 paper

NM_000044.6

p.C125S

c.374G>C