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

1–12 of 97 variants

5 papers

NM_022045.5

p.L750F

c.2248C>T

3 papers

NM_022045.5

p.L478V

c.1432T>G

2 papers

NM_022045.5

p.H48delFs

c.144delC

2 papers

NM_022045.5

p.D313A

c.938A>C

2 papers

NM_022045.5

p.P543L

c.1628C>T

2 papers

NM_022045.5

p.T635A

c.1903A>G

2 papers

NM_022045.5

p.S707A

c.2119T>G

2 papers

NM_022045.5

p.R736W

c.2206C>T

2 papers

NM_022045.5

p.T799A

c.2395A>G

1 paper

NM_022045.5

p.E12K

c.34G>A

1 paper

NM_022045.5

p.S17L

c.50C>T

1 paper

NM_022045.5

p.P27S

c.79C>T