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

1–12 of 146 variants

3 papers

NM_001085377.2

p.G20S

c.58G>A

3 papers

NM_001085377.2

p.G21_S22ins1

c.63_64insGGC

2 papers

NM_001085377.2

p.S15G

c.43A>G

2 papers

NM_001085377.2

p.G18S

c.52G>A

2 papers

NM_001085377.2

p.S26delins

c.76delinsGGCA

2 papers

NM_001085377.2

p.G139Splc

c.416-1G>A

2 papers

NM_001085377.2

p.K380R

c.1139A>G

2 papers

NM_001085377.2

p.E444Q

c.1330G>C

1 paper

NM_001085377.2

p.M1insFs

c.1_2insG

1 paper

NM_001085377.2

p.M1I

c.3G>T

1 paper

NM_001085377.2

p.M2T

c.5T>C

1 paper

NM_001085377.2

p.A4T

c.10G>A