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.E112E

c.336G>A

Surrounding Variants

1 paper

NM_000044.6

p.E112_E113insFs

c.336_337ins32

1 paper

NM_000044.6

p.E113_Q115del0

c.338_343del6

1 paper

NM_000044.6

p.E113V

c.338A>T

1 paper

NM_000044.6

p.Q115_Q118del4

c.343_353del12

1 paper

NM_000044.6

p.E112fs

c.334_335fs

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

2 papers

NM_000044.6

p.D111N

c.331G>A

1 paper

NM_000044.6

p.D111_E112insT

c.331_335ins3

2 papers

NM_000044.6

p.L110L

c.330G>C

1 paper

NM_000044.6

p.Q115K

c.343C>A