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.S821F

c.2462C>T

Surrounding Variants

1 paper

NM_001048166.1

p.S821A

c.2461T>G

1 paper

NM_001048166.1

p.S822C

c.2464A>T

1 paper

NM_001048166.1

p.K819R

c.2456A>G

1 paper

NM_001048166.1

p.S828F

c.2483C>T

1 paper

NM_001048166.1

p.M813T

c.2438T>C

1 paper

NM_001048166.1

p.M813L

c.2437A>T

1 paper

NM_001048166.1

p.M813L

c.2437A>C

1 paper

NM_001048166.1

p.D830N

c.2488G>A

1 paper

NM_001048166.1

p.S811F

c.2432C>T

1 paper

NM_001048166.1

p.E834K

c.2500G>A

1 paper

NM_001048166.1

p.V835A

c.2504T>C

1 paper

NM_001048166.1

p.E805D

c.2415G>T