Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1
Variant:p.K60_S61Splc

COMMD1

58 papers

Pfam Domains

COMMD1_Naa 6–107UCSCCOMMD1 N-terminal domain
COMM_domainaa 115–178UCSCCOMM domain

Gene Aliases

HGNC Name

copper metabolism domain containing 1

HGNC Previous Symbol

C2orf5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152516.4
p.K60_S61Splc
c.181-35A>G
Surrounding Variants
1 paper
NM_152516.4
p.A65T
c.193G>A
1 paper
NM_152516.4
p.A65_D66insFs
c.195_196insT
1 paper
NM_152516.4
p.D66N
c.196G>A
1 paper
NM_152516.4
p.D66Y
c.196G>T
1 paper
NM_152516.4
p.Q71_L72delFs
c.213_214delGC
1 paper
NM_152516.4
p.T77A
c.229A>G
2 papers
NM_152516.4
p.T77N
c.230C>A
1 paper
NM_152516.4
p.A78V
c.233C>T
1 paper
NM_152516.4
p.Q79H
c.237A>T
1 paper
NM_152516.4
p.G85E
c.254G>A
2 papers
NM_152516.4
p.G85V
c.254G>T
1 paper
NM_152516.4
p.G85G
c.255G>T
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