Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.K172E

CTRC

193 papers

RefSeq Summary

This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants ...

Pfam Domains

Trypsinaa 30–262UCSCTrypsin

Gene Aliases

HGNC Name

chymotrypsin C

HGNC Alias Symbols

CLCR; ELA4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_007272.3
p.K172E
c.514A>G
Surrounding Variants
1 paper
NM_007272.3
p.L173Q
c.518T>A
1 paper
NM_007272.3
p.A170insFs
c.509_510insGG
1 paper
NM_007272.3
p.I169I
c.507T>C
1 paper
NM_007272.3
p.P168T
c.502C>A
2 papers
NM_007272.3
p.Q178R
c.533A>G
1 paper
NM_007272.3
p.T165Splc
c.494-1G>C
1 paper
NM_007272.3
p.V180_V181del2
c.538_542del6
3 papers
NM_007272.3
p.T165Splc
c.494-10C>T
1 paper
NM_007272.3
p.A184T
c.550G>A
1 paper
NM_007272.3
p.C186F
c.557G>T
1 paper
NM_007272.3
p.D190_G193del4
c.568_578del12
1 paper
NM_007272.3
p.D190G
c.569A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."