Varaico: Literature-Extracted Genetic Variants

MCIDAS

97 papers

RefSeq Summary

This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause ...

Pfam Domains

Gemininaa 174–255UCSCGeminin

GMNC_Caa 342–385UCSCGeminin coiled-coil domain-containing protein 1, C-terminal domain

Gene Aliases

HGNC Name

multiciliate differentiation and DNA synthesis associated cell cycle protein

HGNC Previous Symbol

MCIN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001190787.3

p.V122V

c.366G>C

Surrounding Variants

1 paper

NM_001190787.3

p.T121S

c.361A>T

1 paper

NM_001190787.3

p.S127A

c.379T>G

1 paper

NM_001190787.3

p.D112A

c.335A>C

2 papers

NM_001190787.3

p.A111Fs

c.332_333delinsGFs

1 paper

NM_001190787.3

p.A111E

c.332C>A

1 paper

NM_001190787.3

p.A111fs

c.331_332fs

1 paper

NM_001190787.3

p.A138D

c.413C>A

1 paper

NM_001190787.3

p.S139T

c.416G>C

4 papers

NM_001190787.3

p.C147*

c.441C>A

1 paper

NM_001190787.3

p.G153R

c.457G>C

1 paper

NM_001190787.3

p.G153R

c.457G>A

1 paper

NM_001190787.3

p.R163W

c.487C>T