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.E156K

c.466G>A

Surrounding Variants

1 paper

NM_001388067.1

p.E137G

c.410A>G

1 paper

NM_001388067.1

p.K129_L130Splc

c.387+1G>A

1 paper

NM_001388067.1

p.T112I

c.335C>T

1 paper

NM_001388067.1

p.D108H

c.322G>C

1 paper

NM_001388067.1

p.N63D

c.187A>G

2 papers

NM_001388067.1

p.S61*

c.182C>A

2 papers

NM_001388067.1

p.S61*

c.182C>G

1 paper

NM_001388067.1

p.K36R

c.107A>G

1 paper

NM_001388067.1

p.N33S

c.98A>G

1 paper

NM_001388067.1

p.T24M

c.71C>T