Varaico: Literature-Extracted Genetic Variants

Gene:TTLL2
Variant:p.A548A

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.A548A
c.1644T>C
Surrounding Variants
1 paper
NM_031949.5
p.S530*
c.1589C>A
1 paper
NM_031949.5
p.Q584R
c.1751A>G
1 paper
NM_031949.5
p.R479H
c.1436G>A
1 paper
NM_031949.5
p.L458H
c.1373T>A
1 paper
NM_031949.5
p.L453I
c.1357C>A
2 papers
NM_031949.5
p.P450S
c.1348C>T
2 papers
NM_031949.5
p.G445S
c.1333G>A
1 paper
NM_031949.5
p.R444I
c.1331G>T
1 paper
NM_031949.5
p.A439V
c.1316C>T
1 paper
NM_031949.5
p.D410V
c.1229A>T
1 paper
NM_031949.5
p.L407L
c.1221T>C
1 paper
NM_031949.5
p.T399K
c.1196C>A
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