Varaico: Literature-Extracted Genetic Variants

Gene:CRNN
Variant:p.S180N

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.S180N
c.539G>A
Surrounding Variants
1 paper
NM_016190.3
p.G187E
c.560G>A
1 paper
NM_016190.3
p.T189I
c.566C>T
1 paper
NM_016190.3
p.E190*
c.568G>T
1 paper
NM_016190.3
p.R200G
c.598A>G
1 paper
NM_016190.3
p.E205D
c.615G>T
1 paper
NM_016190.3
p.E205D
c.615G>C
1 paper
NM_016190.3
p.Q147K
c.439C>A
1 paper
NM_016190.3
p.G143S
c.427G>A
1 paper
NM_016190.3
p.R219K
c.656G>A
1 paper
NM_016190.3
p.Q139R
c.416A>G
2 papers
NM_016190.3
p.E225Q
c.673G>C
2 papers
NM_016190.3
p.A126V
c.377C>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."