Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.K247E

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
4 papers
NM_007272.3
p.K247E
c.739A>G
Surrounding Variants
1 paper
NM_007272.3
p.R246R
c.738C>T
1 paper
NM_007272.3
p.K247_R254del8
c.739_761del24
1 paper
NM_007272.3
p.K248*
c.742A>T
4 papers
NM_007272.3
p.R246C
c.736C>T
1 paper
NM_007272.3
p.K248K
c.744G>A
6 papers
NM_007272.3
p.P249L
c.746C>T
23 papers
NM_007272.3
p.R246_R254del0
c.738_761del24
3 papers
NM_007272.3
p.V250E
c.749T>A
1 paper
NM_007272.3
p.V251I
c.751G>A
1 paper
NM_007272.3
p.G242fs
c.724_725fs
1 paper
NM_007272.3
p.R241P
c.722G>C
1 paper
NM_007272.3
p.T253A
c.757A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."