Varaico: Literature-Extracted Genetic Variants

Gene:COMMD2
Variant:p.P146R

COMMD2

23 papers

Pfam Domains

COMM_HNaa 3–103UCSCCOMMD2-7/10, HN domain
COMM_domainaa 120–182UCSCCOMM domain

Gene Aliases

HGNC Name

COMM domain containing 2

HGNC Alias Symbol

HSPC042

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016094.4
p.P146R
c.437C>G
Surrounding Variants
2 papers
NM_016094.4
p.A147A
c.441A>T
1 paper
NM_016094.4
p.I144M
c.432T>G
4 papers
NM_016094.4
p.V148M
c.442G>A
1 paper
NM_016094.4
p.A170V
c.509C>T
1 paper
NM_016094.4
p.H125N
c.373C>A
2 papers
NM_016094.4
p.L121I
c.361C>A
1 paper
NM_016094.4
p.E116V
c.347A>T
6 papers
NM_016094.4
p.I113L
c.337A>C
1 paper
NM_016094.4
p.T112M
c.335C>T
1 paper
NM_016094.4
p.Y103*
c.309T>A
1 paper
NM_016094.4
p.E94K
c.280G>A
1 paper
NM_016094.4
p.G90*
c.268G>T
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