Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.S387_N400delins

CDKL5

651 papers

RefSeq Summary

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm synd...

Pfam Domains

Pkinaseaa 13–297UCSCProtein kinase domain

Gene Aliases

HGNC Name

cyclin dependent kinase like 5

HGNC Previous Symbol

STK9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001323289.2
p.S387_N400delins
c.1160_1200delinsAGGGGTGG
Surrounding Variants
1 paper
NM_001323289.2
p.S388_T393del0
c.1162_1179del18
1 paper
NM_001323289.2
p.A386A
c.1158A>T
1 paper
NM_001323289.2
p.S387_S388del0
c.1159_1164del6
1 paper
NM_001323289.2
p.S387_N400del0
c.1159_1200del42
1 paper
NM_001323289.2
p.S387_N401del0
c.1159_1203del45
1 paper
NM_001323289.2
p.S388_T398delFs
c.1163_1193del31
1 paper
NM_001323289.2
p.S388_N399delFs
c.1163_1197del35
1 paper
NM_001323289.2
p.A386_D396delFs
c.1158_1186del29
1 paper
NM_001323289.2
p.S388_D396delFs
c.1164_1188del25
7 papers
NM_001323289.2
p.S388_P403delFs
c.1164_1207del44
1 paper
NM_001323289.2
p.A386fs
c.1156_1157fs
1 paper
NM_001323289.2
p.A386_D396delFs
c.1157_1188del32
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