Varaico: Literature-Extracted Genetic Variants

Gene:COBLL1

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
1–12 of 83 variants
3 papers
NM_001365672.2
p.V327M
c.979G>A
3 papers
NM_001365672.2
p.L869fs
c.2605_2606fs
3 papers
NM_001365672.2
p.L869delFs
c.2606delA
3 papers
NM_001365672.2
p.N901D
c.2701A>G
3 papers
NM_001365672.2
p.F974delFs
c.2921delA
2 papers
NM_001365672.2
p.I151V
c.451A>G
2 papers
NM_001365672.2
p.T833I
c.2498C>T
2 papers
NM_001365672.2
p.I939V
c.2815A>G
1 paper
NM_001365672.2
p.A13V
c.38C>T
1 paper
NM_001365672.2
p.T28I
c.83C>T
1 paper
NM_001365672.2
p.S35*
c.104C>G
1 paper
NM_001365672.2
p.S35*
c.104C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."