Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.S46P

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
1 paper
NM_007272.3
p.S46P
c.136T>C
Surrounding Variants
8 papers
NM_007272.3
p.Q48R
c.143A>G
1 paper
NM_007272.3
p.N52S
c.155A>G
2 papers
NM_007272.3
p.Q44_I45Splc
c.133-19C>G
9 papers
NM_007272.3
p.W55*
c.164G>A
2 papers
NM_007272.3
p.W55S
c.164G>C
8 papers
NM_007272.3
p.W55*
c.165G>A
2 papers
NM_007272.3
p.T58M
c.173C>T
1 paper
NM_007272.3
p.C59Y
c.176G>A
1 paper
NM_007272.3
p.G60_G61delFs
c.180_181delCG
1 paper
NM_007272.3
p.G60G
c.180C>A
37 papers
NM_007272.3
p.G60G
c.180C>T
8 papers
NM_007272.3
p.G61R
c.181G>A
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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."