Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.A288V

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.A288V
c.863C>T
Surrounding Variants
2 papers
NM_000044.6
p.A288D
c.863C>A
1 paper
NM_000044.6
p.E289_C290del2
c.865_869del6
1 paper
NM_000044.6
p.A288fs
c.862_863fs
1 paper
NM_000044.6
p.E289K
c.865G>A
2 papers
NM_000044.6
p.L287F
c.861G>C
1 paper
NM_000044.6
p.E289insFs
c.865_866insA
1 paper
NM_000044.6
p.L287F
c.861G>T
1 paper
NM_000044.6
p.L287S
c.860T>C
1 paper
NM_000044.6
p.A288_C290delFs
c.862_869del8
2 papers
NM_000044.6
p.C290S
c.868T>A
2 papers
NM_000044.6
p.C290R
c.868T>C
1 paper
NM_000044.6
p.P286L
c.857C>T
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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."