Varaico: Literature-Extracted Genetic Variants

Gene:ASTL
Variant:p.S224R

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.S224R
c.670A>C
Surrounding Variants
1 paper
NM_001002036.4
p.S224R
c.672C>G
1 paper
NM_001002036.4
p.S224R
c.672C>A
8 papers
NM_001002036.4
p.Q222R
c.665A>G
2 papers
NM_001002036.4
p.Q222*
c.664C>T
1 paper
NM_001002036.4
p.Y230C
c.689A>G
3 papers
NM_001002036.4
p.E215K
c.643G>A
1 paper
NM_001002036.4
p.H237Y
c.709C>T
1 paper
NM_001002036.4
p.Y238C
c.713A>G
1 paper
NM_001002036.4
p.Y238S
c.713A>C
1 paper
NM_001002036.4
p.L241L
c.723C>T
2 papers
NM_001002036.4
p.A242T
c.724G>A
1 paper
NM_001002036.4
p.R246C
c.736C>T
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