Varaico: Literature-Extracted Genetic Variants

Gene:SCEL
Variant:p.R618I

SCEL

52 papers

RefSeq Summary

The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly ...

Gene Aliases

HGNC Name

sciellin

HGNC Alias Symbols

FLJ21667; MGC22531

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144777.3
p.R618I
c.1853G>T
Surrounding Variants
1 paper
NM_144777.3
p.R618R
c.1854A>G
1 paper
NM_144777.3
p.D619Y
c.1855G>T
1 paper
NM_144777.3
p.C624F
c.1871G>T
1 paper
NM_144777.3
p.D637Y
c.1909G>T
1 paper
NM_144777.3
p.E638D
c.1914A>C
1 paper
NM_144777.3
p.E638D
c.1914A>T
1 paper
NM_001160706.2
p.Q598*
c.1792C>T
NM_003843.4
p.Q620*
c.1858C>T
2 papers
NM_144777.3
p.Q640Q
c.1920A>G
1 paper
NM_144777.3
p.L660L
c.1980A>G
2 papers
NM_144777.3
p.W667C
c.2001G>C
2 papers
NM_144777.3
p.W667C
c.2001G>T
1 paper
NM_144777.3
p.I673M
c.2019A>G
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