Varaico: Literature-Extracted Genetic Variants

MIPOL1

31 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has b...

Pfam Domains

MIPOL1_Naa 108–212UCSCMirror-image polydactyly gene 1 protein N-terminal domain

MIPOL1_Caa 214–310UCSCMirror-image polydactyly gene 1 protein C-terminal domain

Gene Aliases

HGNC Name

mirror-image polydactyly 1

HGNC Alias Symbol

CCDC193

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001388067.1

p.L387M

c.1159C>A

Surrounding Variants

2 papers

NM_001388067.1

p.R398*

c.1192C>T

1 paper

NM_001388067.1

p.H346Q

c.1038C>A

1 paper

NM_001388067.1

p.H346Q

c.1038C>G