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.L239F

c.717G>T

Surrounding Variants

1 paper

NM_000044.6

p.L239F

c.717G>C

1 paper

NM_000044.6

p.L239S

c.716T>C

3 papers

NM_000044.6

p.C240Y

c.719G>A

1 paper

NM_000044.6

p.C240S

c.719G>C

1 paper

NM_000044.6

p.L239_C240ins6

c.715_719ins18

1 paper

NM_000044.6

p.L239_C240ins11

c.715_719ins33

1 paper

NM_000044.6

p.L239_C240del2

c.715_719del6

1 paper

NM_000044.6

p.E238G

c.713A>G

5 papers

NM_000044.6

p.K241*

c.721A>T

1 paper

NM_000044.6

p.E238_L239delFs

c.714_715delGT

2 papers

NM_000044.6

p.K241M

c.722A>T

3 papers

NM_000044.6

p.E238K

c.712G>A