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.T980A

c.2938A>G

Surrounding Variants

7 papers

NM_001048166.1

p.H985R

c.2954A>G

1 paper

NM_001048166.1

p.L989L

c.2967G>A

2 papers

NM_001048166.1

p.H969R

c.2906A>G

1 paper

NM_001048166.1

p.A998V

c.2993C>T

1 paper

NM_001048166.1

p.T999I

c.2996C>T

1 paper

NM_001048166.1

p.Q959H

c.2877G>T

1 paper

NM_001048166.1

p.Q959H

c.2877G>C

1 paper

NM_001048166.1

p.T957I

c.2870C>T

1 paper

NM_001048166.1

p.R1004G

c.3010A>G

1 paper

NM_001048166.1

p.S954del1

c.2860_2862delGGA

1 paper

NM_001048166.1

p.S952N

c.2855G>A

1 paper

NM_001048166.1

p.N947_S952delFs

c.2839_2854del16