Varaico: Literature-Extracted Genetic Variants

SUGT1

42 papers

RefSeq Summary

This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative spl...

Pfam Domains

TPR_16aa 17–78UCSCTetratricopeptide repeat

TPR_16aa 58–110UCSCTetratricopeptide repeat

CSaa 172–248UCSCCS domain

SGSaa 285–365UCSCSGS domain

Gene Aliases

HGNC Name

SGT1 assembly cochaperone of MIS12 kinetochore complex

HGNC Alias Symbol

SGT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

2 papers

NM_006704.5

p.S129A

c.385T>G

2 papers

NM_006704.5

p.S175F

c.524C>T

2 papers

NM_006704.5

p.S249A

c.745T>G

2 papers

NM_006704.5

p.G304D

c.911G>A

1 paper

NM_006704.5

p.A9G

c.26C>G

1 paper

NM_006704.5

p.L38delFs

c.112_113delTT

1 paper

NM_006704.5

p.Y47N

c.139T>A

1 paper

NM_006704.5

p.K69N

c.207G>C

1 paper

NM_006704.5

p.T80T

c.240T>C

1 paper

NM_006704.5

p.Y90F

c.269A>T

1 paper

NM_006704.5

p.K107*

c.319A>T

1 paper

NM_006704.5

p.S110C

c.328A>T