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.I210Splc

c.629+1G>A

Surrounding Variants

1 paper

NM_022045.5

p.E209*

c.625G>T

1 paper

NM_022045.5

p.L193M

c.577T>A

1 paper

NM_022045.5

p.P177P

c.531T>A

1 paper

NM_022045.5

p.I168T

c.503T>C

1 paper

NM_022045.5

p.L226V

c.676T>G

1 paper

NM_022045.5

p.V232A

c.695T>C

1 paper

NM_022045.5

p.S235*

c.704C>A

1 paper

NM_022045.5

p.S235*

c.704C>G

1 paper

NM_022045.5

p.S235L

c.704C>T

1 paper

NM_022045.5

p.E237K

c.709G>A

1 paper

NM_022045.5

p.W246R

c.736T>A

1 paper

NM_022045.5

p.W246R

c.736T>C