Varaico: Literature-Extracted Genetic Variants

Gene:ASTL
Variant:p.P249R

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.P249R
c.746C>G
Surrounding Variants
1 paper
NM_001002036.4
p.P249L
c.746C>T
1 paper
NM_001002036.4
p.R246H
c.737G>A
1 paper
NM_001002036.4
p.R246C
c.736C>T
1 paper
NM_001002036.4
p.P249_T252del4
c.745_755del12
2 papers
NM_001002036.4
p.T250_P253del4
c.748_758del12
2 papers
NM_001002036.4
p.A242T
c.724G>A
1 paper
NM_001002036.4
p.L241L
c.723C>T
1 paper
NM_001002036.4
p.H260R
c.779A>G
1 paper
NM_001002036.4
p.G262S
c.784G>A
1 paper
NM_001002036.4
p.Q263R
c.788A>G
1 paper
NM_001002036.4
p.R264Q
c.791G>A
1 paper
NM_001002036.4
p.N266K
c.798C>G
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