Varaico: Literature-Extracted Genetic Variants

Gene:CMC4
Variant:p.P2L

CMC4

9 papers

RefSeq Summary

This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon splice...

Pfam Domains

CMC4aa 6–62UCSCCx9C motif-containing protein 4

Gene Aliases

HGNC Name

C-X9-C motif containing 4

HGNC Previous Symbol

MTCP1NB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001018024.3
p.P2L
c.5C>T
Surrounding Variants
1 paper
NM_001018024.3
p.I14T
c.41T>C
1 paper
NM_001018024.3
p.N21Y
c.61A>T
1 paper
NM_001018024.3
p.M24T
c.71T>C
1 paper
NM_001018024.3
p.V49I
c.145G>A
1 paper
NM_001018024.3
p.E56fs
c.166_167fs
1 paper
NM_001018024.3
p.R63W
c.187C>T
1 paper
NM_001018024.3
p.A66A
c.198A>T
1 paper
NM_001018024.3
p.*69Q
c.205T>C
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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."