Varaico: Literature-Extracted Genetic Variants

Gene:CRNN
Variant:p.D263G

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
Selected Variant
3 papers
NM_016190.3
p.D263G
c.788A>G
Surrounding Variants
1 paper
NM_016190.3
p.A260S
c.778G>T
1 paper
NM_016190.3
p.E259insFs
c.775_776insA
1 paper
NM_016190.3
p.E269D
c.807G>T
1 paper
NM_016190.3
p.E269D
c.807G>C
2 papers
NM_016190.3
p.T270I
c.809C>T
1 paper
NM_016190.3
p.H271H
c.813C>T
4 papers
NM_016190.3
p.R252S
c.756A>T
4 papers
NM_016190.3
p.R252S
c.756A>C
1 paper
NM_016190.3
p.R252insFs
c.755_756insAA
1 paper
NM_016190.3
p.G251E
c.752G>A
1 paper
NM_016190.3
p.T283A
c.847A>G
1 paper
NM_016190.3
p.G284R
c.850G>C
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."