Varaico: Literature-Extracted Genetic Variants

Gene:CRNN
Variant:p.G480S

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
5 papers
NM_016190.3
p.G480S
c.1438G>A
Surrounding Variants
1 paper
NM_016190.3
p.R479P
c.1436G>C
3 papers
NM_016190.3
p.R479*
c.1435C>T
1 paper
NM_016190.3
p.E477*
c.1429G>T
1 paper
NM_016190.3
p.L486M
c.1456C>A
1 paper
NM_016190.3
p.S488P
c.1462T>C
1 paper
NM_016190.3
p.*496R
c.1486T>C
1 paper
NM_016190.3
p.*496R
c.1486T>A
1 paper
NM_016190.3
p.E449K
c.1345G>A
1 paper
NM_016190.3
p.D445V
c.1334A>T
1 paper
NM_016190.3
p.V443A
c.1328T>C
1 paper
NM_016190.3
p.E441G
c.1322A>G
1 paper
NM_016190.3
p.R424H
c.1271G>A
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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."