Varaico: Literature-Extracted Genetic Variants

Gene:SCYL1
Variant:p.P18L

SCYL1

153 papers

RefSeq Summary

This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inacti...

Pfam Domains

Pkinaseaa 31–236UCSCProtein kinase domain

Gene Aliases

HGNC Name

SCY1 like pseudokinase 1

HGNC Previous Symbol

NTKL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020680.4
p.P18L
c.53C>T
Surrounding Variants
1 paper
NM_020680.4
p.P20S
c.58C>T
1 paper
NM_020680.4
p.P20L
c.59C>T
1 paper
NM_020680.4
p.E22A
c.65A>C
1 paper
NM_020680.4
p.D11E
c.33C>A
1 paper
NM_020680.4
p.L31insFs
c.92_93ins7
2 papers
NM_020680.4
p.V9D
c.26T>A
1 paper
NM_020680.4
p.H32fs
c.94_95fs
1 paper
NM_020680.4
p.R33_R35Fs
c.98_104delinsTCCFs
1 paper
NM_020680.4
p.M1L
c.1A>C
1 paper
NM_020680.4
p.K37_A38Splc
c.111+5G>A
1 paper
NM_020680.4
p.V43_S44delFs
c.129_130delGT
1 paper
NM_020680.4
p.S44T
c.130T>A
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