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.P378R

c.1133C>G

Surrounding Variants

1 paper

NM_000044.6

p.P378Q

c.1133C>A

1 paper

NM_000044.6

p.P378L

c.1133C>T

1 paper

NM_000044.6

p.P378_P380delFs

c.1134_1140del7

2 papers

NM_000044.6

p.P378S

c.1132C>T

1 paper

NM_000044.6

p.P379insFs

c.1135_1136insA

3 papers

NM_000044.6

p.P377S

c.1129C>T

1 paper

NM_000044.6

p.P379P

c.1137G>A

1 paper

NM_000044.6

p.P380_P381delFs

c.1140_1143del4

1 paper

NM_000044.6

p.P380_H384del5

c.1138_1151del15

1 paper

NM_000044.6

p.P380A

c.1138C>G

4 papers

NM_000044.6

p.P380R

c.1139C>G

1 paper

NM_000044.6

p.P376L

c.1127C>T