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.Q61H

c.183A>T

Surrounding Variants

1 paper

NM_002431.4

p.Q61H

c.183A>C

1 paper

NM_002431.4

p.L62delFs

c.185_186delTC

1 paper

NM_002431.4

p.Q61P

c.182A>C

1 paper

NM_002431.4

p.Q61L

c.182A>T

2 papers

NM_002431.4

p.L62F

c.184C>T

1 paper

NM_002431.4

p.V60I

c.178G>A

1 paper

NM_002431.4

p.R59T

c.176G>C

1 paper

NM_002431.4

p.R59W

c.175A>T

1 paper

NM_002431.4

p.F58L

c.174C>G

1 paper

NM_002431.4

p.R59_E64delFs

c.176_191del16

1 paper

NM_002431.4

p.D65G

c.194A>G

1 paper

NM_002431.4

p.D65V

c.194A>T