Varaico: Literature-Extracted Genetic Variants

Gene:TTLL2
Variant:p.K139delFs

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.K139delFs
c.417delA
Surrounding Variants
2 papers
NM_031949.5
p.E134K
c.400G>A
1 paper
NM_031949.5
p.W125*
c.375G>A
1 paper
NM_031949.5
p.W125*
c.374G>A
1 paper
NM_031949.5
p.A160T
c.478G>A
1 paper
NM_031949.5
p.Q116_A118del0
c.346_354del9
1 paper
NM_031949.5
p.Y175*
c.525C>A
1 paper
NM_031949.5
p.Y175*
c.525C>G
1 paper
NM_031949.5
p.A97fs
c.289_290fs
1 paper
NM_031949.5
p.F182F
c.546C>T
1 paper
NM_031949.5
p.T94I
c.281C>T
1 paper
NM_031949.5
p.E93*
c.277G>T
1 paper
NM_031949.5
p.M184K
c.551T>A
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