Varaico: Literature-Extracted Genetic Variants

Gene:ASZ1
Variant:p.Q35K

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.Q35K
c.103C>A
Surrounding Variants
1 paper
NM_130768.3
p.S34F
c.101C>T
1 paper
NM_130768.3
p.E26V
c.77A>T
1 paper
NM_130768.3
p.S20N
c.59G>A
1 paper
NM_130768.3
p.E19E
c.57G>A
1 paper
NM_130768.3
p.G14G
c.42A>G
1 paper
NM_130768.3
p.G13G
c.39C>G
1 paper
NM_130768.3
p.G13D
c.38G>A
1 paper
NM_130768.3
p.V11A
c.32T>C
1 paper
NM_130768.3
p.A5V
c.14C>T
1 paper
NM_130768.3
p.S4fs
c.10_11fs
1 paper
NM_130768.3
p.M1L
c.1A>T
1 paper
NM_130768.3
p.M1L
c.1A>C
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