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.V870E

c.2609T>A

Surrounding Variants

1 paper

NM_001048166.1

p.S871A

c.2611T>G

1 paper

NM_001048166.1

p.S869C

c.2606C>G

1 paper

NM_001048166.1

p.S869P

c.2605T>C

2 papers

NM_001048166.1

p.N865T

c.2594A>C

1 paper

NM_001048166.1

p.I858L

c.2572A>C

1 paper

NM_001048166.1

p.P851S

c.2551C>T

1 paper

NM_001048166.1

p.L838F

c.2512C>T

1 paper

NM_001048166.1

p.V835A

c.2504T>C

1 paper

NM_001048166.1

p.E834K

c.2500G>A

1 paper

NM_001048166.1

p.D830N

c.2488G>A

1 paper

NM_001048166.1

p.S828F

c.2483C>T

1 paper

NM_001048166.1

p.S822C

c.2464A>T