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.E12K

c.34G>A

Surrounding Variants

1 paper

NM_022045.5

p.S17L

c.50C>T

1 paper

NM_022045.5

p.P27S

c.79C>T

1 paper

NM_022045.5

p.P39R

c.116C>G

1 paper

NM_022045.5

p.H48fs

c.142_143fs

2 papers

NM_022045.5

p.H48delFs

c.144delC

1 paper

NM_022045.5

p.F89I

c.265T>A

1 paper

NM_022045.5

p.D103E

c.309T>G

1 paper

NM_022045.5

p.T115T

c.345G>A

1 paper

NM_022045.5

p.N133D

c.397A>G

1 paper

NM_022045.5

p.Y144C

c.431A>G

1 paper

NM_022045.5

p.E146Q

c.436G>C

1 paper

NM_022045.5

p.A147A

c.441T>A