Varaico: Literature-Extracted Genetic Variants

Gene:METTL27
Variant:p.T167S

METTL27

23 papers

RefSeq Summary

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes a...

Pfam Domains

Methyltransf_25aa 71–161UCSCMethyltransferase domain

Gene Aliases

HGNC Name

methyltransferase like 27

HGNC Previous Symbol

WBSCR27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152559.3
p.T167S
c.500C>G
Surrounding Variants
1 paper
NM_152559.3
p.T167S
c.499A>T
2 papers
NM_152559.3
p.S171W
c.512C>G
1 paper
NM_152559.3
p.Y176insFs
c.527dupA
1 paper
NM_152559.3
p.T206T
c.618C>T
1 paper
NM_152559.3
p.A207Fs
c.621delinsCTGTGGACCGCTFs
1 paper
NM_152559.3
p.P213L
c.638C>T
1 paper
NM_152559.3
p.R216W
c.646A>T
2 papers
NM_152559.3
p.P219L
c.656C>T
1 paper
NM_152559.3
p.P229L
c.686C>T
1 paper
NM_152559.3
p.T233A
c.697A>G
1 paper
NM_152559.3
p.A134V
c.401C>T
1 paper
NM_152559.3
p.D133G
c.398A>G
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