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

2 papers

NM_001048166.1

p.P442L

c.1325C>T

Surrounding Variants

1 paper

NM_001048166.1

p.P440S

c.1318C>T

1 paper

NM_001048166.1

p.G433R

c.1297G>C

1 paper

NM_001048166.1

p.L427_S428insA

c.1279_1283ins3

1 paper

NM_001048166.1

p.H458Q

c.1374C>G

1 paper

NM_001048166.1

p.P422T

c.1264C>A

1 paper

NM_001048166.1

p.Q421H

c.1263A>T

1 paper

NM_001048166.1

p.Q421H

c.1263A>C

1 paper

NM_001048166.1

p.K463M

c.1388A>T

1 paper

NM_001048166.1

p.Q421P

c.1262A>C

1 paper

NM_001048166.1

p.Q421fs

c.1261_1262fs

1 paper

NM_001048166.1

p.I417N

c.1250T>A

1 paper

NM_001048166.1

p.Q468R

c.1403A>G