Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.L57_Q58del2

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
4 papers
NM_000044.6
p.L57_Q58del2
c.169_173del6
Surrounding Variants
2 papers
NM_000044.6
p.L56Q
c.167T>A
1 paper
NM_000044.6
p.L56ins1
c.167_168insGCA
1 paper
NM_000044.6
p.L56_Q62ins2
c.168_185dup18
1 paper
NM_000044.6
p.L57_Q59del3
c.169_176del9
2 papers
NM_000044.6
p.L57_Q60del4
c.169_179del12
2 papers
NM_000044.6
p.L56_Q62del0
c.168_185del18
1 paper
NM_000044.6
p.L56V
c.166C>G
1 paper
NM_000044.6
p.L56delFs
c.167delT
1 paper
NM_000044.6
p.L56L
c.168G>C
1 paper
NM_000044.6
p.L57_Q58insL
c.169_173ins3
29 papers
NM_000044.6
p.L57Q
c.170T>A
5 papers
NM_000044.6
p.L55Q
c.164T>A
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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."