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.W148R

c.442T>C

Surrounding Variants

1 paper

NM_001085377.2

p.W148R

c.442T>A

1 paper

NM_001085377.2

p.S147delFs

c.440delC

1 paper

NM_001085377.2

p.Y150H

c.448T>C

1 paper

NM_001085377.2

p.D151H

c.451G>C

1 paper

NM_001085377.2

p.G153D

c.458G>A

1 paper

NM_001085377.2

p.S142A

c.424T>G

1 paper

NM_001085377.2

p.R155G

c.463A>G

2 papers

NM_001085377.2

p.G139Splc

c.416-1G>A

1 paper

NM_001085377.2

p.Q169H

c.507G>T

1 paper

NM_001085377.2

p.K170_L171del2

c.508_512del6

1 paper

NM_001085377.2

p.S178F

c.533C>T

1 paper

NM_001085377.2

p.A183T

c.547G>A