Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.L411Q

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.L411Q
c.1232T>A
Surrounding Variants
1 paper
NM_000044.6
p.A412delFs
c.1234delG
1 paper
NM_000044.6
p.S413_H415delFs
c.1239_1243del5
3 papers
NM_000044.6
p.Y408C
c.1223A>G
1 paper
NM_000044.6
p.L414P
c.1241T>C
1 paper
NM_000044.6
p.H415D
c.1243C>G
1 paper
NM_000044.6
p.H415R
c.1244A>G
1 paper
NM_000044.6
p.R407S
c.1219C>A
2 papers
NM_000044.6
p.R407G
c.1219C>G
1 paper
NM_000044.6
p.R407C
c.1219C>T
1 paper
NM_000044.6
p.C406C
c.1218C>T
1 paper
NM_000044.6
p.G416S
c.1246G>A
1 paper
NM_000044.6
p.A417delFs
c.1249delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."