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.E586K

c.1756G>A

Surrounding Variants

1 paper

NM_001048166.1

p.S581A

c.1741T>G

1 paper

NM_001048166.1

p.T591A

c.1771A>G

1 paper

NM_001048166.1

p.H579L

c.1736A>T

1 paper

NM_001048166.1

p.N601N

c.1803C>T

1 paper

NM_001048166.1

p.A566_P567insA

c.1696_1700ins3

1 paper

NM_001048166.1

p.Q607*

c.1819C>T

1 paper

NM_001048166.1

p.Q562E

c.1684C>G

1 paper

NM_001048166.1

p.S610N

c.1829G>A

2 papers

NM_001048166.1

p.S619Y

c.1856C>A

1 paper

NM_001048166.1

p.W620*

c.1859G>A

1 paper

NM_001048166.1

p.W620*

c.1860G>A

1 paper

NM_001048166.1

p.E549K

c.1645G>A