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.Q381delFs

c.1143delT

Surrounding Variants

7 papers

NM_001048166.1

p.S379F

c.1136C>T

1 paper

NM_001048166.1

p.H391R

c.1172A>G

1 paper

NM_001048166.1

p.D394A

c.1181A>C

1 paper

NM_001048166.1

p.S395A

c.1183T>G

1 paper

NM_001048166.1

p.S395C

c.1184C>G

1 paper

NM_001048166.1

p.G396A

c.1187G>C

1 paper

NM_001048166.1

p.E398K

c.1192G>A

1 paper

NM_001048166.1

p.E400K

c.1198G>A

1 paper

NM_001048166.1

p.S403Y

c.1208C>A

7 papers

NM_001048166.1

p.S409T

c.1226G>C

1 paper

NM_001048166.1

p.P410T

c.1228C>A

4 papers

NM_001048166.1

p.H411D

c.1231C>G