Varaico: Literature-Extracted Genetic Variants

Gene:COMMD7
Variant:p.S148R

COMMD7

14 papers

Pfam Domains

COMM_HNaa 10–113UCSCCOMMD2-7/10, HN domain
COMM_domainaa 130–192UCSCCOMM domain

Gene Aliases

HGNC Name

COMM domain containing 7

HGNC Previous Symbol

C20orf92

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_053041.3
p.S148R
c.442A>C
Surrounding Variants
1 paper
NM_053041.3
p.S148R
c.444C>G
1 paper
NM_053041.3
p.S148R
c.444C>A
1 paper
NM_001099339.2
p.G145E
c.434G>A
1 paper
NM_053041.3
p.G154R
c.460G>C
1 paper
NM_053041.3
p.G154R
c.460G>A
1 paper
NM_053041.3
p.W139*
c.417G>A
1 paper
NM_053041.3
p.W139*
c.416G>A
1 paper
NM_053041.3
p.D136Y
c.406G>T
1 paper
NM_053041.3
p.N132Y
c.394A>T
1 paper
NM_053041.3
p.N116I
c.347A>T
1 paper
NM_053041.3
p.E171*
c.511G>T
1 paper
NM_053041.3
p.S102N
c.305G>A
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