Varaico: Literature-Extracted Genetic Variants

Gene:SCYL1
Variant:p.S129_F130del2

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.S129_F130del2
c.385_389del6
Surrounding Variants
1 paper
NM_020680.4
p.N133fs
c.397_398fs
1 paper
NM_020680.4
p.V125_K126Splc
c.376-9T>C
1 paper
NM_020680.4
p.N133delFs
c.399delC
1 paper
NM_020680.4
p.M144_A145insFs
c.432_433ins16
1 paper
NM_020680.4
p.V149M
c.445G>A
1 paper
NM_020680.4
p.G153G
c.459C>T
1 paper
NM_020680.4
p.E154fs
c.460_461fs
1 paper
NM_020680.4
p.Q167E
c.499C>G
1 paper
NM_020680.4
p.R175H
c.524G>A
2 papers
NM_020680.4
p.K176*
c.526A>T
1 paper
NM_020680.4
p.R106K
c.317G>A
1 paper
NM_020680.4
p.A105A
c.315G>A
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