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.K77I

c.230A>T

Surrounding Variants

3 papers

NM_002431.4

p.L79delFs

c.235delC

1 paper

NM_002431.4

p.L79insFs

c.236dupT

1 paper

NM_002431.4

p.R75K

c.224G>A

1 paper

NM_002431.4

p.L79P

c.236T>C

1 paper

NM_002431.4

p.R75G

c.223A>G

3 papers

NM_002431.4

p.R75W

c.223A>T

1 paper

NM_002431.4

p.K80Q

c.238A>C

1 paper

NM_002431.4

p.R75_K76delFs

c.224_227del4

1 paper

NM_002431.4

p.I81Splc

c.242+1G>A

1 paper

NM_002431.4

p.E71A

c.212A>C

1 paper

NM_002431.4

p.K70M

c.209A>T

1 paper

NM_002431.4

p.D69G

c.206A>G