Varaico: Literature-Extracted Genetic Variants

Gene:CTRC

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
1–12 of 198 variants
61 papers
NM_007272.3
p.R254W
c.760C>T
44 papers
NM_007272.3
p.V235I
c.703G>A
42 papers
NM_007272.3
p.A73T
c.217G>A
37 papers
NM_007272.3
p.G60G
c.180C>T
34 papers
NM_007272.3
p.N25Y
c.73A>T
23 papers
NM_007272.3
p.R246_R254del0
c.738_761del24
16 papers
NM_007272.3
p.G217S
c.649G>A
11 papers
NM_007272.3
p.E34G
c.101A>G
11 papers
NM_007272.3
p.K172E
c.514A>G
9 papers
NM_007272.3
p.W55*
c.164G>A
9 papers
NM_007272.3
p.G217R
c.649G>C
8 papers
NM_007272.3
p.Q48R
c.143A>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."