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.T58I

c.173C>T

Surrounding Variants

1 paper

NM_001048166.1

p.V57L

c.169G>T

1 paper

NM_001048166.1

p.V57L

c.169G>C

1 paper

NM_001048166.1

p.P53_E59del0

c.159_176del18

1 paper

NM_001048166.1

p.A65T

c.193G>A

1 paper

NM_001048166.1

p.N75I

c.224A>T

2 papers

NM_001048166.1

p.N75fs

c.223_224fs

1 paper

NM_001048166.1

p.N75insFs

c.224dupA

1 paper

NM_001048166.1

p.N75delFs

c.224delT

3 papers

NM_001048166.1

p.S76L

c.227C>T

1 paper

NM_001048166.1

p.G82S

c.244G>A

2 papers

NM_001048166.1

p.G82G

c.246T>A

17 papers

NM_001048166.1

p.A86V

c.257C>T