Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.R40fs

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.R40fs
c.118_119fs
Surrounding Variants
1 paper
NM_000044.6
p.R40R
c.118A>C
2 papers
NM_000044.6
p.R40G
c.118A>G
1 paper
NM_000044.6
p.R40_A44del0
c.119_130del12
1 paper
NM_000044.6
p.P39P
c.117C>G
4 papers
NM_000044.6
p.R40delFs
c.118delA
1 paper
NM_000044.6
p.R40_P42del0
c.118_126del9
1 paper
NM_000044.6
p.R40_A48del0
c.118_144del27
1 paper
NM_000044.6
p.P39L
c.116C>T
1 paper
NM_000044.6
p.R40R
c.120G>A
2 papers
NM_000044.6
p.P39S
c.115C>T
1 paper
NM_000044.6
p.P42delFs
c.125delC
1 paper
NM_000044.6
p.P39_R40delFs
c.115_118del4
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