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

5 papers

NM_000044.6

p.P342L

c.1025C>T

Surrounding Variants

1 paper

NM_000044.6

p.S343_T344delFs

c.1029_1032del4

2 papers

NM_000044.6

p.L341Q

c.1022T>A

1 paper

NM_000044.6

p.L341M

c.1021C>A

1 paper

NM_000044.6

p.L341V

c.1021C>G

1 paper

NM_000044.6

p.E340D

c.1020A>T

1 paper

NM_000044.6

p.T344fs

c.1030_1031fs

1 paper

NM_000044.6

p.T344S

c.1031C>G

2 papers

NM_000044.6

p.L345_S346delFs

c.1035_1038del4

1 paper

NM_000044.6

p.E340K

c.1018G>A

1 paper

NM_000044.6

p.E340Q

c.1018G>C

1 paper

NM_000044.6

p.E340insFs

c.1018_1019ins7

1 paper

NM_000044.6

p.E340*

c.1018G>T