Varaico: Literature-Extracted Genetic Variants

STIL

201 papers

RefSeq Summary

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper ...

Pfam Domains

STIL_Naa 33–166UCSCSTIL N-terminal domain

STIL_Naa 33–376UCSCSTIL N-terminal domain

PRM_STILaa 382–435UCSCProline-rich motif in STIL

CC_STILaa 720–748UCSCSTIL coiled coil region

Gene Aliases

HGNC Name

STIL centriolar assembly protein

HGNC Alias Symbol

MCPH7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001048166.1

p.L245delFs

c.734_735delTA

Surrounding Variants

1 paper

NM_001048166.1

p.L245_L246ins2

c.735_736ins6

1 paper

NM_001048166.1

p.L245_L246insIP

c.733_737ins6

4 papers

NM_001048166.1

p.R242C

c.724C>T

1 paper

NM_001048166.1

p.E240K

c.718G>A

1 paper

NM_001048166.1

p.M238T

c.713T>C

1 paper

NM_001048166.1

p.L236H

c.707T>A

1 paper

NM_001048166.1

p.Y235_L236insFs

c.705_706ins10

1 paper

NM_001048166.1

p.G234R

c.700G>C

1 paper

NM_001048166.1

p.G234R

c.700G>A

1 paper

NM_001048166.1

p.S265T

c.793T>A

1 paper

NM_001048166.1

p.R281Q

c.842G>A

1 paper

NM_001048166.1

p.V288V

c.864T>A