Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.S230_T231delFs

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.S230_T231delFs
c.690_691delGA
Surrounding Variants
1 paper
NM_000044.6
p.S230insFs
c.689_690insA
1 paper
NM_000044.6
p.S230P
c.688T>C
1 paper
NM_000044.6
p.S230_T231insA
c.688_692ins3
1 paper
NM_000044.6
p.S230_T231delFs
c.689_692del4
1 paper
NM_000044.6
p.T229insFs
c.685_686insT
2 papers
NM_000044.6
p.G228D
c.683G>A
1 paper
NM_000044.6
p.G228A
c.683G>C
1 paper
NM_000044.6
p.I232N
c.695T>A
2 papers
NM_000044.6
p.I232T
c.695T>C
2 papers
NM_000044.6
p.G228S
c.682G>A
1 paper
NM_000044.6
p.G228R
c.682G>C
1 paper
NM_000044.6
p.G228_T229insTAG
c.682_686ins9
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