Varaico: Literature-Extracted Genetic Variants

MCC

125 papers

RefSeq Summary

This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with th...

Pfam Domains

USHBP1_PDZ-bdaa 402–466UCSCHarmonin-binding protein USHBP1, PDZ-binding domain

USHBP1_PDZ-bdaa 732–798UCSCHarmonin-binding protein USHBP1, PDZ-binding domain

Gene Aliases

HGNC Name

MCC regulator of Wnt signaling pathway

HGNC Previous Names

MCC regulator of WNT signaling pathway; mutated in colorectal cancers; MCC, WNT signaling pathway regulator

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001085377.2

p.S28S

c.84C>T

Surrounding Variants

1 paper

NM_001085377.2

p.S27C

c.79A>T

1 paper

NM_001085377.2

p.S27G

c.79A>G

1 paper

NM_001085377.2

p.S26G

c.76A>G

2 papers

NM_001085377.2

p.S26delins

c.76delinsGGCA

1 paper

NM_001085377.2

p.S25G

c.73A>G

1 paper

NM_001085377.2

p.S24_S25ins3

c.72_73ins9

1 paper

NM_001085377.2

p.S32S

c.96C>A

1 paper

NM_001085377.2

p.S33insFs

c.98_99insG

1 paper

NM_001085377.2

p.G23S

c.67G>A

1 paper

NM_001085377.2

p.S33_G35Fs

c.98_104delinsTCCFs

1 paper

NM_001085377.2

p.S22G

c.64A>G

3 papers

NM_001085377.2

p.G21_S22ins1

c.63_64insGGC