Varaico: Literature-Extracted Genetic Variants

Gene:ASZ1

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
1–12 of 70 variants
3 papers
NM_130768.3
p.G205V
c.614G>T
2 papers
NM_130768.3
p.E180D
c.540G>T
2 papers
NM_130768.3
p.E180D
c.540G>C
2 papers
NM_130768.3
p.K216T
c.647A>C
1 paper
NM_130768.3
p.M1L
c.1A>T
1 paper
NM_130768.3
p.M1L
c.1A>C
1 paper
NM_130768.3
p.S4fs
c.10_11fs
1 paper
NM_130768.3
p.A5V
c.14C>T
1 paper
NM_130768.3
p.V11A
c.32T>C
1 paper
NM_130768.3
p.G13D
c.38G>A
1 paper
NM_130768.3
p.G13G
c.39C>G
1 paper
NM_130768.3
p.G14G
c.42A>G
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