Varaico: Literature-Extracted Genetic Variants

Gene:CMA1
Variant:p.C51R

CMA1

59 papers

RefSeq Summary

This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the...

Pfam Domains

Trypsinaa 22–240UCSCTrypsin

Gene Aliases

HGNC Name

chymase 1

HGNC Previous Name

chymase 1, mast cell

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001836.5
p.C51R
c.151T>C
Surrounding Variants
1 paper
NM_001836.5
p.C51delFs
c.153delA
1 paper
NM_001836.5
p.F54insFs
c.161dupT
1 paper
NM_001836.5
p.G46C
c.136G>T
3 papers
NM_001836.5
p.G46R
c.136G>C
1 paper
NM_001836.5
p.I56delFs
c.166delT
1 paper
NM_001836.5
p.I56fs
c.166_167fs
1 paper
NM_001836.5
p.R58Q
c.173G>A
1 paper
NM_001836.5
p.T63M
c.188C>T
5 papers
NM_001836.5
p.Y38*
c.114C>G
5 papers
NM_001836.5
p.Y38*
c.114C>A
3 papers
NM_001836.5
p.H66R
c.197A>G
1 paper
NM_001836.5
p.R33C
c.97C>T
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