Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.A629Splc

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.A629Splc
c.1886-1G>A
Surrounding Variants
1 paper
NM_000044.6
p.A629Splc
c.1886-1G>T
1 paper
NM_000044.6
p.A629Splc
c.1886-2A>G
1 paper
NM_000044.6
p.R630_N637del8
c.1888_1910del24
6 papers
NM_000044.6
p.R630W
c.1888C>T
2 papers
NM_000044.6
p.R630delFs
c.1890delG
9 papers
NM_000044.6
p.R630Q
c.1889G>A
1 paper
NM_000044.6
p.K631fs
c.1891_1892fs
1 paper
NM_000044.6
p.K631*
c.1891A>T
3 papers
NM_000044.6
p.K631T
c.1892A>C
1 paper
NM_000044.6
p.L632L
c.1896G>A
1 paper
NM_000044.6
p.K633Q
c.1897A>C
2 papers
NM_000044.6
p.K633R
c.1898A>G
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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."