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

2 papers

NM_002431.4

p.Q4H

c.12G>C

Surrounding Variants

2 papers

NM_002431.4

p.Q4Q

c.12G>A

1 paper

NM_002431.4

p.Q4delFs

c.12delG

1 paper

NM_002431.4

p.Q4E

c.10C>G

1 paper

NM_002431.4

p.D3E

c.9T>G

1 paper

NM_002431.4

p.D2insFs

c.6dupC

1 paper

NM_002431.4

p.P7fs

c.19_20fs

1 paper

NM_002431.4

p.P7insFs

c.21dupT

1 paper

NM_002431.4

p.M1I

c.3G>A

1 paper

NM_002431.4

p.R8W

c.22C>T

1 paper

NM_002431.4

p.M1K

c.2T>A

1 paper

NM_002431.4

p.M1T

c.2T>C

1 paper

NM_002431.4

p.M1insFs

c.3dupG