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.L642_G647delFs

c.1926_1941del16

Surrounding Variants

1 paper

NM_001048166.1

p.S646R

c.1938T>G

1 paper

NM_001048166.1

p.S646R

c.1938T>A

1 paper

NM_001048166.1

p.S646R

c.1936A>C

1 paper

NM_001048166.1

p.S658delFs

c.1973_1974delAG

1 paper

NM_001048166.1

p.P667L

c.2000C>T

1 paper

NM_001048166.1

p.Q668*

c.2002C>T

2 papers

NM_001048166.1

p.S673G

c.2017A>G

1 paper

NM_001048166.1

p.S673R

c.2017A>C

1 paper

NM_001048166.1

p.S673R

c.2019T>G

1 paper

NM_001048166.1

p.S673R

c.2019T>A

1 paper

NM_001048166.1

p.W620*

c.1860G>A

1 paper

NM_001048166.1

p.W620*

c.1859G>A