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

4 papers

NM_001048166.1

p.G717E

c.2150G>A

Surrounding Variants

1 paper

NM_001048166.1

p.K708T

c.2123A>C

1 paper

NM_001048166.1

p.H705Q

c.2115C>G

1 paper

NM_001048166.1

p.Q729L

c.2186A>T

1 paper

NM_001048166.1

p.H705_T706ins10

c.2113_2117ins30

1 paper

NM_001048166.1

p.R734T

c.2201G>C

1 paper

NM_001048166.1

p.L735_L736ins6

c.2203_2207ins18

1 paper

NM_001048166.1

p.Q698H

c.2094G>T

1 paper

NM_001048166.1

p.Q698H

c.2094G>C

1 paper

NM_001048166.1

p.R734_L735del2

c.2200_2204del6

1 paper

NM_001048166.1

p.Q737E

c.2209C>G

1 paper

NM_001048166.1

p.N696_P697ins8

c.2086_2090ins24

1 paper

NM_001048166.1

p.Q739K

c.2215C>A