Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1
Variant:p.K173E

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
2 papers
NM_152516.4
p.K173E
c.517A>G
Surrounding Variants
1 paper
NM_152516.4
p.L172M
c.514C>A
9 papers
NM_152516.4
p.T174M
c.521C>T
1 paper
NM_152516.4
p.L175insFs
c.523_524insA
1 paper
NM_152516.4
p.V178I
c.532G>A
1 paper
NM_152516.4
p.V178A
c.533T>C
2 papers
NM_152516.4
p.K167E
c.499A>G
4 papers
NM_152516.4
p.D164D
c.492T>C
1 paper
NM_152516.4
p.L161V
c.481T>G
1 paper
NM_152516.4
p.C160S
c.479G>C
1 paper
NM_152516.4
p.C160S
c.478T>A
1 paper
NM_152516.4
p.S187C
c.559A>T
1 paper
NM_152516.4
p.S187fs
c.559_560fs
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