Varaico: Literature-Extracted Genetic Variants

Gene:COBLL1
Variant:p.I939V

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
2 papers
NM_001365672.2
p.I939V
c.2815A>G
Surrounding Variants
1 paper
NM_001365672.2
p.G940S
c.2818G>A
1 paper
NM_001365672.2
p.P943delins
c.2827_2829delinsTTG
1 paper
NM_001365672.2
p.E932G
c.2795A>G
1 paper
NM_001365672.2
p.A946V
c.2837C>T
1 paper
NM_001365672.2
p.P949L
c.2846C>T
1 paper
NM_001365672.2
p.D907delFs
c.2720delT
3 papers
NM_001365672.2
p.F974delFs
c.2921delA
3 papers
NM_001365672.2
p.N901D
c.2701A>G
1 paper
NM_001365672.2
p.R978Q
c.2933G>A
1 paper
NM_001365672.2
p.S981insFs
c.2941_2942insGT
1 paper
NM_001365672.2
p.A895T
c.2683G>A
1 paper
NM_001365672.2
p.G984R
c.2950G>C
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