Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_022045.5

p.T531A

c.1591A>G

Surrounding Variants

1 paper

NM_022045.5

p.S501T

c.1502G>C

2 papers

NM_022045.5

p.P543L

c.1628C>T

1 paper

NM_022045.5

p.S547N

c.1640G>A

1 paper

NM_022045.5

p.E558Q

c.1672G>C

1 paper

NM_022045.5

p.K570R

c.1709A>G

3 papers

NM_022045.5

p.L478V

c.1432T>G

1 paper

NM_022045.5

p.R466T

c.1397G>C

1 paper

NM_022045.5

p.T577A

c.1729A>G

1 paper

NM_022045.5

p.S579A

c.1735T>G

1 paper

NM_022045.5

p.S579*

c.1736C>A

1 paper

NM_022045.5

p.S579*

c.1736C>G

1 paper

NM_022045.5

p.K591R

c.1772A>G