Varaico: Literature-Extracted Genetic Variants

Gene:TTLL2
Variant:p.M348I

TTLL2

53 papers

Pfam Domains

TTLaa 58–350UCSCTubulin-tyrosine ligase family

Gene Aliases

HGNC Name

tubulin tyrosine ligase like 2

HGNC Previous Symbol

C6orf104

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031949.5
p.M348I
c.1044G>C
Surrounding Variants
1 paper
NM_031949.5
p.M348I
c.1044G>A
1 paper
NM_031949.5
p.M348I
c.1044G>T
1 paper
NM_031949.5
p.R347C
c.1039C>T
1 paper
NM_031949.5
p.H346_L354del9
c.1036_1061del27
1 paper
NM_031949.5
p.K344T
c.1031A>C
1 paper
NM_031949.5
p.R332H
c.995G>A
1 paper
NM_031949.5
p.S329fs
c.985_986fs
1 paper
NM_031949.5
p.L324L
c.972C>T
1 paper
NM_031949.5
p.C320Y
c.959G>A
1 paper
NM_031949.5
p.G306R
c.916G>A
1 paper
NM_031949.5
p.G306R
c.916G>C
1 paper
NM_031949.5
p.T399K
c.1196C>A
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