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.L500delFs

c.1500delC

Surrounding Variants

1 paper

NM_001048166.1

p.L500fs

c.1498_1499fs

1 paper

NM_001048166.1

p.P497S

c.1489C>T

1 paper

NM_001048166.1

p.P497A

c.1489C>G

1 paper

NM_001048166.1

p.N493delFs

c.1477delT

1 paper

NM_001048166.1

p.Q491H

c.1473G>T

1 paper

NM_001048166.1

p.Q491H

c.1473G>C

1 paper

NM_001048166.1

p.N490S

c.1469A>G

1 paper

NM_001048166.1

p.P489Q

c.1466C>A

6 papers

NM_001048166.1

p.L485F

c.1455G>T

6 papers

NM_001048166.1

p.L485F

c.1455G>C

1 paper

NM_001048166.1

p.H517fs

c.1549_1550fs

2 papers

NM_001048166.1

p.S484S

c.1452C>G