Varaico: Literature-Extracted Genetic Variants

Gene:MMP23B
Variant:p.A50A

MMP23B

17 papers

RefSeq Summary

This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are ...

Pfam Domains

Peptidase_M10aa 87–254UCSCMatrixin
ShKaa 254–289UCSCShK domain-like

Gene Aliases

HGNC Name

matrix metallopeptidase 23B

HGNC Previous Symbol

MMP22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006983.2
p.A50A
c.150A>G
Surrounding Variants
1 paper
NM_006983.2
p.A44V
c.131C>T
1 paper
NM_006983.2
p.G13E
c.38G>A
1 paper
NM_006983.2
p.R78_Y79insFs
c.234_235insAA
1 paper
NM_006983.2
p.R130_E131delFs
c.390_391delCG
1 paper
NM_006983.2
p.E131delFs
c.391delG
1 paper
NM_006983.2
p.G166W
c.496G>T
1 paper
NM_006983.2
p.H176Q
c.528C>A
4 papers
NM_006983.2
p.P191L
c.572C>T
1 paper
NM_006983.2
p.T234_L235insAA
c.700_704ins6
1 paper
NM_006983.2
p.A354A
c.1062G>C
1 paper
NM_006983.2
p.T367delFs
c.1100delC
1 paper
NM_006983.2
p.V372L
c.1114G>C
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