Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.L57L

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.L57L
c.171G>T
Surrounding Variants
1 paper
NM_000044.6
p.Q58_Q59ins1
c.174_175insTAG
1 paper
NM_000044.6
p.Q58*
c.172C>T
29 papers
NM_000044.6
p.L57Q
c.170T>A
1 paper
NM_000044.6
p.L57insFs
c.170_171insG
13 papers
NM_000044.6
p.L57ins1
c.170_171insGCA
10 papers
NM_000044.6
p.Q58ins2
c.173_174ins6
1 paper
NM_000044.6
p.L57insFs
c.170_171ins7
8 papers
NM_000044.6
p.Q80ins3
c.239_240ins9
5 papers
NM_000044.6
p.L57ins4
c.170_171ins12
3 papers
NM_000044.6
p.Q75_Q80ins2
c.225_239dup15
2 papers
NM_000044.6
p.Q59ins7
c.176_177ins21
1 paper
NM_000044.6
p.L57ins8
c.170_171ins24
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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."