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

2 papers

NM_001085377.2

p.K380R

c.1139A>G

Surrounding Variants

1 paper

NM_001085377.2

p.H381_I382insATC

c.1141_1145ins9

1 paper

NM_001085377.2

p.T387I

c.1160C>T

1 paper

NM_001085377.2

p.A388T

c.1162G>A

1 paper

NM_001085377.2

p.S389G

c.1165A>G

1 paper

NM_001085377.2

p.C392R

c.1174T>C

1 paper

NM_001085377.2

p.V363D

c.1088T>A

1 paper

NM_001085377.2

p.N344S

c.1031A>G

1 paper

NM_001085377.2

p.E400K

c.1198G>A

1 paper

NM_001085377.2

p.E401K

c.1201G>A

1 paper

NM_001085377.2

p.G404A

c.1211G>C

1 paper

NM_001085377.2

p.L414L

c.1240C>T

1 paper

NM_001085377.2

p.K423K

c.1269G>A