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.D121H

c.361G>C

Surrounding Variants

1 paper

NM_001048166.1

p.P125P

c.375A>G

1 paper

NM_001048166.1

p.P114T

c.340C>A

1 paper

NM_001048166.1

p.V128A

c.383T>C

1 paper

NM_001048166.1

p.V106I

c.316G>A

1 paper

NM_001048166.1

p.R104L

c.311G>T

1 paper

NM_001048166.1

p.R104*

c.310C>T

2 papers

NM_001048166.1

p.P102delFs

c.305delG

1 paper

NM_001048166.1

p.R99_F100insFs

c.297_298insA

1 paper

NM_001048166.1

p.V143insFs

c.427_428insA

1 paper

NM_001048166.1

p.V143A

c.428T>C

1 paper

NM_001048166.1

p.S147T

c.440G>C

1 paper

NM_001048166.1

p.V93I

c.277G>A