Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.S220fs

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.S220fs
c.658_659fs
Surrounding Variants
2 papers
NM_000044.6
p.S220C
c.659C>G
1 paper
NM_000044.6
p.S221insFs
c.661dupT
1 paper
NM_000044.6
p.S221_S230del0
c.661_690del30
1 paper
NM_000044.6
p.T219_S220insC
c.655_659ins3
1 paper
NM_000044.6
p.T219P
c.655A>C
1 paper
NM_000044.6
p.T219A
c.655A>G
3 papers
NM_000044.6
p.T219delFs
c.656delC
1 paper
NM_000044.6
p.S221_K222insA
c.661_665ins3
1 paper
NM_000044.6
p.S221_Y225delFs
c.662_675del14
1 paper
NM_000044.6
p.P218P
c.654C>G
1 paper
NM_000044.6
p.S221C
c.662C>G
1 paper
NM_000044.6
p.K222fs
c.664_665fs
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