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

3 papers

NM_002431.4

p.L30Splc

c.89+1G>C

Surrounding Variants

1 paper

NM_002431.4

p.L30H

c.89T>A

1 paper

NM_002431.4

p.L30F

c.88C>T

1 paper

NM_002431.4

p.T29fs

c.85_86fs

1 paper

NM_002431.4

p.N24Y

c.70A>T

1 paper

NM_002431.4

p.L21delFs

c.61delC

1 paper

NM_002431.4

p.K20delFs

c.60delG

1 paper

NM_002431.4

p.K20E

c.58A>G

1 paper

NM_002431.4

p.S18delFs

c.54delC

1 paper

NM_002431.4

p.P17insFs

c.50_51insT

1 paper

NM_002431.4

p.R15R

c.45G>C

1 paper

NM_002431.4

p.K13R

c.38A>G

1 paper

NM_002431.4

p.T11insFs

c.32dupC