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.180+122C>T
Surrounding Variants
1 paper
NM_152516.4
p.K60_S61Splc
c.180+69C>G
1 paper
NM_152516.4
p.K60_S61Splc
c.180+33G>C
2 papers
NM_152516.4
p.K60_S61Splc
c.180+4C>T
1 paper
NM_152516.4
p.L59H
c.176T>A
1 paper
NM_152516.4
p.G57G
c.171G>C
1 paper
NM_152516.4
p.P41S
c.121C>T
1 paper
NM_152516.4
p.F24insFs
c.70_71insTA
1 paper
NM_152516.4
p.T23T
c.69T>A
1 paper
NM_152516.4
p.N17T
c.50A>C
1 paper
NM_152516.4
p.N17D
c.49A>G
1 paper
NM_152516.4
p.L16Q
c.47T>A
1 paper
NM_152516.4
p.L15P
c.44T>C
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