Varaico: Literature-Extracted Genetic Variants

Gene:TTLL12
Variant:p.H130H

TTLL12

54 papers

Pfam Domains

SET_TTLaa 89–263UCSCTubulin tyrosine ligase SET-like domain
TTLaa 346–642UCSCTubulin-tyrosine ligase family

Gene Aliases

HGNC Name

tubulin tyrosine ligase like 12

HGNC Alias Symbol

KIAA0153

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015140.4
p.H130H
c.390C>T
Surrounding Variants
2 papers
NM_015140.4
p.R127H
c.380G>A
2 papers
NM_015140.4
p.R127C
c.379C>T
1 paper
NM_015140.4
p.L119F
c.355C>T
1 paper
NM_015140.4
p.Q175H
c.525G>C
1 paper
NM_015140.4
p.I193S
c.578T>G
1 paper
NM_015140.4
p.F197L
c.589T>C
1 paper
NM_015140.4
p.F197L
c.591C>G
1 paper
NM_015140.4
p.F197L
c.591C>A
1 paper
NM_015140.4
p.A204A
c.612G>A
1 paper
NM_015140.4
p.T247M
c.740C>T
1 paper
NM_015140.4
p.R252W
c.754C>T
1 paper
NM_015140.4
p.P272H
c.815C>A
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