Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1
Variant:p.I145I

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.I145I
c.435A>T
Surrounding Variants
1 paper
NM_152516.4
p.G150R
c.448G>C
1 paper
NM_152516.4
p.P141A
c.421C>G
1 paper
NM_152516.4
p.R120fs
c.358_359fs
8 papers
NM_152516.4
p.R120W
c.358C>T
1 paper
NM_152516.4
p.L119fs
c.355_356fs
1 paper
NM_152516.4
p.L119_G121delFs
c.356_363del8
1 paper
NM_152516.4
p.S117N
c.350G>A
1 paper
NM_152516.4
p.S117T
c.350G>C
1 paper
NM_152516.4
p.S117I
c.350G>T
1 paper
NM_152516.4
p.N116I
c.347A>T
2 papers
NM_152516.4
p.Q154_E155Splc
c.462+63C>G
1 paper
NM_152516.4
p.N116_G118del0
c.346_354del9
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