Varaico: Literature-Extracted Genetic Variants

Gene:COMMD1

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
1–12 of 71 variants
9 papers
NM_152516.4
p.T174M
c.521C>T
8 papers
NM_152516.4
p.R120W
c.358C>T
4 papers
NM_152516.4
p.D164D
c.492T>C
2 papers
NM_152516.4
p.L6H
c.17T>A
2 papers
NM_152516.4
p.K60_S61Splc
c.180+4C>T
2 papers
NM_152516.4
p.T77N
c.230C>A
2 papers
NM_152516.4
p.G85V
c.254G>T
2 papers
NM_152516.4
p.Q154_E155Splc
c.462+63C>G
2 papers
NM_152516.4
p.K167E
c.499A>G
2 papers
NM_152516.4
p.K173E
c.517A>G
1 paper
NM_152516.4
p.M1K
c.2T>A
1 paper
NM_152516.4
p.A2V
c.5C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."