Varaico: Literature-Extracted Genetic Variants

Gene:MTBP
Variant:p.L478V

MTBP

60 papers

RefSeq Summary

This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provide...

Pfam Domains

MTBP_Naa 1–270UCSCMDM2-binding
MTBP_midaa 294–632UCSCMDM2-binding
MTBP_Caa 636–894UCSCMDM2-binding

Gene Aliases

HGNC Name

MDM2 binding protein

HGNC Previous Names

MDM2 (mouse double minute 2)-binding protein, 104kD; Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_022045.5
p.L478V
c.1432T>G
Surrounding Variants
1 paper
NM_022045.5
p.R466T
c.1397G>C
1 paper
NM_022045.5
p.T441A
c.1321A>G
1 paper
NM_022045.5
p.T439A
c.1315A>G
1 paper
NM_022045.5
p.G426A
c.1277G>C
1 paper
NM_022045.5
p.R411K
c.1232G>A
1 paper
NM_022045.5
p.L404F
c.1212G>C
1 paper
NM_022045.5
p.L404F
c.1212G>T
1 paper
NM_022045.5
p.G396V
c.1187G>T
1 paper
NM_022045.5
p.S501T
c.1502G>C
1 paper
NM_022045.5
p.T531A
c.1591A>G
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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."