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.V35L

c.103G>T

Surrounding Variants

1 paper

NM_002431.4

p.C34*

c.102T>A

1 paper

NM_002431.4

p.C34C

c.102T>C

1 paper

NM_002431.4

p.V35A

c.104T>C

1 paper

NM_002431.4

p.C34S

c.100T>A

1 paper

NM_002431.4

p.D36A

c.107A>C

1 paper

NM_002431.4

p.S33R

c.99T>A

1 paper

NM_002431.4

p.S33R

c.99T>G

1 paper

NM_002431.4

p.S33delFs

c.99delT

1 paper

NM_002431.4

p.S33R

c.97A>C

1 paper

NM_002431.4

p.S33C

c.97A>T

1 paper

NM_002431.4

p.L37F

c.111A>T

1 paper

NM_002431.4

p.C31S

c.91T>A