Varaico: Literature-Extracted Genetic Variants

Gene:CRNN
Variant:p.Q6*

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.Q6*
c.16C>T
Surrounding Variants
2 papers
NM_016190.3
p.R17C
c.49C>T
1 paper
NM_016190.3
p.A19E
c.56C>A
1 paper
NM_016190.3
p.T21M
c.62C>T
1 paper
NM_016190.3
p.T21T
c.63G>A
1 paper
NM_016190.3
p.G23D
c.68G>A
1 paper
NM_016190.3
p.A27V
c.80C>T
1 paper
NM_016190.3
p.L28V
c.82C>G
1 paper
NM_016190.3
p.Q39H
c.117A>T
1 paper
NM_016190.3
p.Q39H
c.117A>C
1 paper
NM_016190.3
p.H49Y
c.145C>T
1 paper
NM_016190.3
p.R59C
c.175C>T
2 papers
NM_016190.3
p.R59H
c.176G>A
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