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

2 papers

NM_000044.6

p.Q115R

c.344A>G

Surrounding Variants

1 paper

NM_000044.6

p.Q115insFs

c.344_345insC

1 paper

NM_000044.6

p.Q115K

c.343C>A

1 paper

NM_000044.6

p.Q115*

c.343C>T

1 paper

NM_000044.6

p.P116fs

c.346_347fs

2 papers

NM_000044.6

p.P116S

c.346C>T

1 paper

NM_000044.6

p.Q114ins10

c.341_342ins30

1 paper

NM_000044.6

p.Q114R

c.341A>G

2 papers

NM_000044.6

p.Q114L

c.341A>T

1 paper

NM_000044.6

p.P116R

c.347C>G

1 paper

NM_000044.6

p.P116Fs

c.347delinsTGFs

1 paper

NM_000044.6

p.E113V

c.338A>T

1 paper

NM_000044.6

p.Q115_Q118del4

c.343_353del12