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.K349T

c.1046A>C

Surrounding Variants

2 papers

NM_000044.6

p.Y348_K349insFs

c.1044_1045insC

1 paper

NM_000044.6

p.Y348fs

c.1042_1043fs

1 paper

NM_000044.6

p.G351insFs

c.1053dupA

1 paper

NM_000044.6

p.L347R

c.1040T>G

2 papers

NM_000044.6

p.L347fs

c.1039_1040fs

1 paper

NM_000044.6

p.S346C

c.1037C>G

1 paper

NM_000044.6

p.A352G

c.1055C>G

1 paper

NM_000044.6

p.A352V

c.1055C>T

1 paper

NM_000044.6

p.S346fs

c.1036_1037fs

2 papers

NM_000044.6

p.L347_Y348delFs

c.1041_1042delCT

1 paper

NM_000044.6

p.L345P

c.1034T>C

1 paper

NM_000044.6

p.L345R

c.1034T>G