Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.E2V

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.E2V
c.5A>T
Surrounding Variants
1 paper
NM_000044.6
p.E2D
c.6A>C
1 paper
NM_000044.6
p.E2D
c.6A>T
5 papers
NM_000044.6
p.E2K
c.4G>A
1 paper
NM_000044.6
p.E2insFs
c.6dupA
5 papers
NM_000044.6
p.M1I
c.3G>A
5 papers
NM_000044.6
p.V3M
c.7G>A
2 papers
NM_000044.6
p.M1I
c.3G>C
1 paper
NM_000044.6
p.V3L
c.7G>C
1 paper
NM_000044.6
p.M1_E2ins2
c.3_4ins6
1 paper
NM_000044.6
p.V3_Q4ins6
c.7_11ins18
1 paper
NM_000044.6
p.M1_E2insFs
c.3_4insT
1 paper
NM_000044.6
p.V3insFs
c.8_9insT
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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."