Varaico: Literature-Extracted Genetic Variants

Gene:CRNN
Variant:p.G108V

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.G108V
c.323G>T
Surrounding Variants
1 paper
NM_016190.3
p.G108fs
c.322_323fs
1 paper
NM_016190.3
p.Q111Q
c.333G>A
2 papers
NM_016190.3
p.A126V
c.377C>T
1 paper
NM_016190.3
p.T88T
c.264A>C
1 paper
NM_016190.3
p.T88I
c.263C>T
1 paper
NM_016190.3
p.A84D
c.251C>A
1 paper
NM_016190.3
p.Q83R
c.248A>G
1 paper
NM_016190.3
p.Q139R
c.416A>G
1 paper
NM_016190.3
p.G143S
c.427G>A
1 paper
NM_016190.3
p.Q147K
c.439C>A
1 paper
NM_016190.3
p.V69L
c.205G>T
1 paper
NM_016190.3
p.V69L
c.205G>C
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