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.T653T

c.1959T>C

Surrounding Variants

1 paper

NM_000044.6

p.T653N

c.1958C>A

4 papers

NM_000044.6

p.E654K

c.1960G>A

1 paper

NM_000044.6

p.E654*

c.1960G>T

1 paper

NM_000044.6

p.T653fs

c.1957_1958fs

1 paper

NM_000044.6

p.E654D

c.1962G>C

1 paper

NM_000044.6

p.E654D

c.1962G>T

1 paper

NM_000044.6

p.P652S

c.1954C>T

2 papers

NM_000044.6

p.S651G

c.1951A>G

1 paper

NM_000044.6

p.T656R

c.1967C>G

1 paper

NM_000044.6

p.T650P

c.1948A>C

3 papers

NM_000044.6

p.T650A

c.1948A>G

1 paper

NM_000044.6

p.Q658delFs

c.1972_1973delCA