Varaico: Literature-Extracted Genetic Variants

Gene:TTLL12
Variant:p.H58Q

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
1 paper
NM_015140.4
p.H58Q
c.174C>A
Surrounding Variants
1 paper
NM_015140.4
p.H58Q
c.174C>G
1 paper
NM_015140.4
p.P21L
c.62C>T
1 paper
NM_015140.4
p.P7P
c.21C>G
1 paper
NM_015140.4
p.P7T
c.19C>A
1 paper
NM_015140.4
p.A83V
c.248C>T
1 paper
NM_015140.4
p.P91S
c.271C>T
2 papers
NM_015140.4
p.N95S
c.284A>G
1 paper
NM_015140.4
p.R105K
c.314G>A
1 paper
NM_015140.4
p.A111T
c.331G>A
1 paper
NM_015140.4
p.L119F
c.355C>T
2 papers
NM_015140.4
p.R127C
c.379C>T
2 papers
NM_015140.4
p.R127H
c.380G>A
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