Varaico: Literature-Extracted Genetic Variants

Gene:COMMD3
Variant:p.D16N

COMMD3

31 papers

Pfam Domains

COMM_HNaa 1–104UCSCCOMMD2-7/10, HN domain
COMM_domainaa 121–185UCSCCOMM domain

Gene Aliases

HGNC Name

COMM domain containing 3

HGNC Alias Symbol

BUP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012071.4
p.D16N
c.46G>A
Surrounding Variants
1 paper
NM_012071.4
p.P17S
c.49C>T
1 paper
NM_012071.4
p.P17P
c.51C>G
1 paper
NM_012071.4
p.S19T
c.55T>A
1 paper
NM_012071.4
p.S19Y
c.56C>A
1 paper
NM_012071.4
p.S19F
c.56C>T
1 paper
NM_012071.4
p.D21V
c.62A>T
2 papers
NM_012071.4
p.A31T
c.91G>A
1 paper
NM_012071.4
p.A31E
c.92C>A
1 paper
NM_012071.4
p.E43K
c.127G>A
1 paper
NM_012071.4
p.L46_D47insFs
c.138_139insTA
1 paper
NM_012071.4
p.D47Splc
c.140-2A>G
1 paper
NM_012071.4
p.P56L
c.167C>T
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