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

3 papers

NM_001048166.1

p.R785insFs

c.2354_2355dupGA

Surrounding Variants

4 papers

NM_001048166.1

p.K786fs

c.2356_2357fs

1 paper

NM_001048166.1

p.K786R

c.2357A>G

1 paper

NM_001048166.1

p.G787S

c.2359G>A

2 papers

NM_001048166.1

p.V788I

c.2362G>A

2 papers

NM_001048166.1

p.L782_H783delFs

c.2344_2347del4

2 papers

NM_001048166.1

p.L782fs

c.2344_2345fs

1 paper

NM_001048166.1

p.P780S

c.2338C>T

1 paper

NM_001048166.1

p.E770Q

c.2308G>C

1 paper

NM_001048166.1

p.A765fs

c.2293_2294fs

1 paper

NM_001048166.1

p.Q764H

c.2292A>T

1 paper

NM_001048166.1

p.Q764H

c.2292A>C

1 paper

NM_001048166.1

p.V763_Q764insFs

c.2287_2291dup5