Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB12
Variant:p.Q148fs

SERPINB12

16 papers

Pfam Domains

Serpinaa 6–405UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 12

HGNC Previous Names

serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12; serpin peptidase inhibitor, clade B (ovalbumin), member 12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001307928.2
p.Q148fs
c.442_443fs
Surrounding Variants
1 paper
NM_001307928.2
p.Q148insFs
c.443dupA
1 paper
NM_001307928.2
p.E89D
c.267G>C
1 paper
NM_001307928.2
p.E89D
c.267G>T
1 paper
NM_001307928.2
p.P71A
c.211C>G
1 paper
NM_001307928.2
p.H59Y
c.175C>T
1 paper
NM_001307928.2
p.Q168insFs
c.503dupA
1 paper
NM_001307928.2
p.Q168fs
c.502_503fs
1 paper
NM_001307928.2
p.E177K
c.529G>A
1 paper
NM_001307928.2
p.R43H
c.128G>A
1 paper
NM_001307928.2
p.R24H
c.71G>A
1 paper
NM_001307928.2
p.L4F
c.10C>T
1 paper
NM_001307928.2
p.W217L
c.650G>T
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