Varaico: Literature-Extracted Genetic Variants

Gene:CRNN

CRNN

79 papers

RefSeq Summary

This gene encodes a member of the 'fused gene' family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding d...

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

cornulin

HGNC Alias Symbol

SEP53

Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
5 papers
NM_016190.3
p.G480S
c.1438G>A
4 papers
NM_016190.3
p.R252S
c.756A>T
4 papers
NM_016190.3
p.R252S
c.756A>C
3 papers
NM_016190.3
p.D263G
c.788A>G
3 papers
NM_016190.3
p.R479*
c.1435C>T
2 papers
NM_016190.3
p.R17C
c.49C>T
2 papers
NM_016190.3
p.R59H
c.176G>A
2 papers
NM_016190.3
p.A126V
c.377C>T
2 papers
NM_016190.3
p.E225Q
c.673G>C
2 papers
NM_016190.3
p.T270I
c.809C>T
2 papers
NM_016190.3
p.I330T
c.989T>C
2 papers
NM_016190.3
p.Q374H
c.1122G>T
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."