Varaico: Literature-Extracted Genetic Variants

Gene:CRNN
Variant:p.A341S

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
1 paper
NM_016190.3
p.A341S
c.1021G>T
Surrounding Variants
2 papers
NM_016190.3
p.I330T
c.989T>C
1 paper
NM_016190.3
p.G352E
c.1055G>A
1 paper
NM_016190.3
p.R326K
c.977G>A
1 paper
NM_016190.3
p.Q360H
c.1080G>T
1 paper
NM_016190.3
p.Q360H
c.1080G>C
1 paper
NM_016190.3
p.R372G
c.1114A>G
2 papers
NM_016190.3
p.Q374H
c.1122G>T
2 papers
NM_016190.3
p.Q374H
c.1122G>C
1 paper
NM_016190.3
p.E303D
c.909G>T
1 paper
NM_016190.3
p.E303D
c.909G>C
1 paper
NM_016190.3
p.Q300H
c.900G>T
1 paper
NM_016190.3
p.Q300*
c.898C>T
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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."