Varaico: Literature-Extracted Genetic Variants

Gene:ASTL
Variant:p.E75K

ASTL

63 papers

Pfam Domains

Astacinaa 87–280UCSCAstacin (Peptidase family M12A)

Gene Aliases

HGNC Name

astacin like metalloendopeptidase

HGNC Alias Symbols

ovastacin; SAS1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002036.4
p.E75K
c.223G>A
Surrounding Variants
1 paper
NM_001002036.4
p.P81P
c.243G>A
1 paper
NM_001002036.4
p.E66V
c.197A>T
1 paper
NM_001002036.4
p.L64Q
c.191T>A
4 papers
NM_001002036.4
p.F84fs
c.250_251fs
3 papers
NM_001002036.4
p.F84_R85delFs
c.250_253del4
1 paper
NM_001002036.4
p.K93N
c.279A>T
1 paper
NM_001002036.4
p.K93N
c.279A>C
1 paper
NM_001002036.4
p.P105L
c.314C>T
1 paper
NM_001002036.4
p.P105R
c.314C>G
1 paper
NM_001002036.4
p.Y112S
c.335A>C
4 papers
NM_001002036.4
p.R117C
c.349C>T
1 paper
NM_001002036.4
p.R117H
c.350G>A
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