Varaico: Literature-Extracted Genetic Variants

Gene:MBLAC1
Variant:p.R196Q

MBLAC1

17 papers

Pfam Domains

Lactamase_Baa 72–135UCSCMetallo-beta-lactamase superfamily

Gene Aliases

HGNC Name

metallo-beta-lactamase domain containing 1

HGNC Alias Symbol

MGC49416

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203397.3
p.R196Q
c.587G>A
Surrounding Variants
1 paper
NM_203397.3
p.D192G
c.575A>G
2 papers
NM_203397.3
p.R217Q
c.650G>A
1 paper
NM_203397.3
p.G171V
c.512G>T
1 paper
NM_203397.3
p.V228E
c.683T>A
1 paper
NM_203397.3
p.R239delFs
c.715delA
1 paper
NM_203397.3
p.R239fs
c.715_716fs
1 paper
NM_203397.3
p.S242W
c.725C>G
1 paper
NM_203397.3
p.D136N
c.406G>A
1 paper
NM_203397.3
p.R77R
c.231T>G
1 paper
NM_203397.3
p.A76G
c.227C>G
1 paper
NM_203397.3
p.L72P
c.215T>C
1 paper
NM_203397.3
p.E69G
c.206A>G
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