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.F535_E536insFs

c.1605_1606insT

Surrounding Variants

1 paper

NM_001048166.1

p.F535_E536insA

c.1603_1607ins3

1 paper

NM_001048166.1

p.D533G

c.1598A>G

1 paper

NM_001048166.1

p.P530S

c.1588C>T

1 paper

NM_001048166.1

p.P524_N528del5

c.1570_1583del15

1 paper

NM_001048166.1

p.E549K

c.1645G>A

1 paper

NM_001048166.1

p.H517delFs

c.1549delG

1 paper

NM_001048166.1

p.H517fs

c.1549_1550fs

1 paper

NM_001048166.1

p.Q562E

c.1684C>G

1 paper

NM_001048166.1

p.A566_P567insA

c.1696_1700ins3

1 paper

NM_001048166.1

p.L500delFs

c.1500delC

1 paper

NM_001048166.1

p.L500fs

c.1498_1499fs

1 paper

NM_001048166.1

p.P497S

c.1489C>T