Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.H100L

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.H100L
c.299A>T
Surrounding Variants
1 paper
NM_000044.6
p.R101S
c.301C>A
2 papers
NM_000044.6
p.R101C
c.301C>T
3 papers
NM_000044.6
p.R101H
c.302G>A
1 paper
NM_000044.6
p.R101L
c.302G>T
1 paper
NM_000044.6
p.A99insFs
c.296_297insC
1 paper
NM_000044.6
p.A99_H100insT
c.295_299ins3
1 paper
NM_000044.6
p.R102*
c.304A>T
2 papers
NM_000044.6
p.R102K
c.305G>A
1 paper
NM_000044.6
p.R102R
c.306A>G
1 paper
NM_000044.6
p.Q98E
c.292C>G
3 papers
NM_000044.6
p.Q98*
c.292C>T
1 paper
NM_000044.6
p.P97P
c.291C>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."