Varaico: Literature-Extracted Genetic Variants

Gene:COBLL1
Variant:p.C223delFs

COBLL1

87 papers

Pfam Domains

Coblaa 136–227UCSCCordon-bleu ubiquitin-like domain

Gene Aliases

HGNC Name

cordon-bleu WH2 repeat protein like 1

HGNC Alias Symbol

KIAA0977

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365672.2
p.C223delFs
c.667delA
Surrounding Variants
1 paper
NM_001365672.2
p.S222Y
c.665C>A
1 paper
NM_001365672.2
p.S226L
c.677C>T
1 paper
NM_001365672.2
p.S226_Q227del1
c.678_680delTGT
1 paper
NM_001365672.2
p.R246H
c.737G>A
1 paper
NM_001365672.2
p.R267H
c.800G>A
1 paper
NM_001365672.2
p.A302G
c.905C>G
3 papers
NM_001365672.2
p.V327M
c.979G>A
1 paper
NM_001365672.2
p.D328N
c.982G>A
1 paper
NM_001365672.2
p.K332_S333Splc
c.996+4T>C
1 paper
NM_001365672.2
p.V218D
c.653T>A
1 paper
NM_001365672.2
p.Q194*
c.580C>T
1 paper
NM_001365672.2
p.Q194E
c.580C>G
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