Varaico: Literature-Extracted Genetic Variants

Gene:ASZ1
Variant:p.Y183F

ASZ1

55 papers

Pfam Domains

Ank_2aa 50–146UCSCAnkyrin repeats (3 copies)
Ank_2aa 126–212UCSCAnkyrin repeats (3 copies)
Ank_2aa 126–212UCSCAnkyrin repeats (3 copies)
SAM_2aa 271–334UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

ankyrin repeat, SAM and basic leucine zipper domain containing 1

HGNC Previous Symbol

ANKL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130768.3
p.Y183F
c.548A>T
Surrounding Variants
2 papers
NM_130768.3
p.E180D
c.540G>T
2 papers
NM_130768.3
p.E180D
c.540G>C
1 paper
NM_130768.3
p.A173_E174insFs
c.519_520insC
1 paper
NM_130768.3
p.H171D
c.511C>G
1 paper
NM_130768.3
p.T162S
c.484A>T
1 paper
NM_130768.3
p.T162A
c.484A>G
1 paper
NM_130768.3
p.R158Q
c.473G>A
1 paper
NM_130768.3
p.Y155Y
c.465T>C
1 paper
NM_130768.3
p.M154insFs
c.460dupA
1 paper
NM_130768.3
p.M154V
c.460A>G
1 paper
NM_130768.3
p.L149P
c.446T>C
1 paper
NM_130768.3
p.R191C
c.571C>T
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