Varaico: Literature-Extracted Genetic Variants

Gene:CRNN
Variant:p.Q403H

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.Q403H
c.1209G>C
Surrounding Variants
1 paper
NM_016190.3
p.Q403H
c.1209G>T
1 paper
NM_016190.3
p.A404S
c.1210G>T
1 paper
NM_016190.3
p.G401E
c.1202G>A
1 paper
NM_016190.3
p.P400P
c.1200G>A
1 paper
NM_016190.3
p.G407W
c.1219G>T
1 paper
NM_016190.3
p.P400L
c.1199C>T
1 paper
NM_016190.3
p.A408E
c.1223C>A
1 paper
NM_016190.3
p.E394G
c.1181A>G
1 paper
NM_016190.3
p.V390E
c.1169T>A
2 papers
NM_016190.3
p.V390M
c.1168G>A
1 paper
NM_016190.3
p.R424H
c.1271G>A
2 papers
NM_016190.3
p.Q374H
c.1122G>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."