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

1–12 of 333 variants

17 papers

NM_001048166.1

p.A86V

c.257C>T

7 papers

NM_001048166.1

p.S379F

c.1136C>T

7 papers

NM_001048166.1

p.S409T

c.1226G>C

7 papers

NM_001048166.1

p.H985R

c.2954A>G

6 papers

NM_001048166.1

p.L485F

c.1455G>T

6 papers

NM_001048166.1

p.L485F

c.1455G>C

6 papers

NM_001048166.1

p.L798W

c.2393T>G

5 papers

NM_001048166.1

p.D89fs

c.265_266fs

4 papers

NM_001048166.1

p.R242C

c.724C>T

4 papers

NM_001048166.1

p.H411D

c.1231C>G

4 papers

NM_001048166.1

p.G717E

c.2150G>A

4 papers

NM_001048166.1

p.K786fs

c.2356_2357fs