Varaico: Literature-Extracted Genetic Variants

Gene:COBLL1
Variant:p.S667del1

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.S667del1
c.1999_2000delTGA
Surrounding Variants
1 paper
NM_001365672.2
p.C678_H680delFs
c.2034_2038del5
1 paper
NM_001365672.2
p.C678_H680del3
c.2032_2039del9
1 paper
NM_001365672.2
p.T653A
c.1957A>G
1 paper
NM_001365672.2
p.H620H
c.1860T>C
1 paper
NM_001365672.2
p.Q593H
c.1779A>C
1 paper
NM_001365672.2
p.N592Y
c.1774A>T
1 paper
NM_001365672.2
p.S745P
c.2233T>C
1 paper
NM_001365672.2
p.E558V
c.1673A>T
1 paper
NM_001365672.2
p.S786S
c.2358T>C
1 paper
NM_001365672.2
p.E547D
c.1641A>T
1 paper
NM_001365672.2
p.E547D
c.1641A>C
1 paper
NM_001365672.2
p.I544_N545ins5
c.1630_1634ins15
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