Varaico: Literature-Extracted Genetic Variants

MNAT1

392 papers

RefSeq Summary

The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate...

Pfam Domains

zf-C3HC4_5aa 3–51UCSCZinc finger, C3HC4 type (RING finger)

MAT1aa 53–250UCSCCDK-activating kinase assembly factor MAT1

CAK-anch_MAT1aa 255–306UCSCMAT1 C-terminal CAK anchor

Gene Aliases

HGNC Name

MNAT1 component of CDK activating kinase

HGNC Alias Symbols

MAT1; RNF66

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002431.4

p.Q173*

c.517C>T

Surrounding Variants

1 paper

NM_002431.4

p.I174T

c.521T>C

1 paper

NM_002431.4

p.L175delFs

c.523delC

1 paper

NM_002431.4

p.L171V

c.511C>G

2 papers

NM_002431.4

p.L171L

c.511C>T

1 paper

NM_002431.4

p.L175L

c.523C>T

2 papers

NM_002431.4

p.N179S

c.536A>G

1 paper

NM_002431.4

p.N179I

c.536A>T

1 paper

NM_002431.4

p.K180delFs

c.540delG

1 paper

NM_002431.4

p.Q181delFs

c.543delG

1 paper

NM_002431.4

p.L184insFs

c.551dupT

1 paper

NM_002431.4

p.R162*

c.484A>T

3 papers

NM_002431.4

p.L184_D185insFs

c.552_553ins4