Varaico: Literature-Extracted Genetic Variants

Gene:TTLL2
Variant:p.P63S

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.P63S
c.187C>T
Surrounding Variants
1 paper
NM_031949.5
p.E66Q
c.196G>C
1 paper
NM_031949.5
p.I54F
c.160A>T
1 paper
NM_031949.5
p.T26T
c.78C>A
1 paper
NM_031949.5
p.T21insFs
c.61dupA
1 paper
NM_031949.5
p.G16Splc
c.48-167G>C
1 paper
NM_031949.5
p.G16Splc
c.48-168T>A
1 paper
NM_031949.5
p.V91I
c.271G>A
1 paper
NM_031949.5
p.E93*
c.277G>T
1 paper
NM_031949.5
p.T94I
c.281C>T
1 paper
NM_031949.5
p.A97fs
c.289_290fs
1 paper
NM_031949.5
p.Q116_A118del0
c.346_354del9
1 paper
NM_031949.5
p.W125*
c.374G>A
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