Varaico: Literature-Extracted Genetic Variants

Gene:TTLL4
Variant:p.P382L

TTLL4

82 papers

Pfam Domains

TTLaa 650–946UCSCTubulin-tyrosine ligase family

Gene Aliases

HGNC Name

tubulin tyrosine ligase like 4

HGNC Alias Symbol

KIAA0173

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014640.5
p.P382L
c.1145C>T
Surrounding Variants
1 paper
NM_014640.5
p.P366S
c.1096C>T
1 paper
NM_014640.5
p.L400_P401insA
c.1198_1202ins3
1 paper
NM_014640.5
p.E359Q
c.1075G>C
1 paper
NM_014640.5
p.G347D
c.1040G>A
3 papers
NM_014640.5
p.R418H
c.1253G>A
1 paper
NM_014640.5
p.S420N
c.1259G>A
1 paper
NM_014640.5
p.K342*
c.1024A>T
1 paper
NM_014640.5
p.S439S
c.1317T>A
1 paper
NM_014640.5
p.E315*
c.943G>T
1 paper
NM_014640.5
p.K450R
c.1349A>G
1 paper
NM_014640.5
p.P454H
c.1361C>A
1 paper
NM_014640.5
p.P455fs
c.1363_1364fs
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