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

1–12 of 199 variants

3 papers

NM_002431.4

p.L30Splc

c.89+1G>C

3 papers

NM_002431.4

p.L30Splc

c.90-2A>G

3 papers

NM_002431.4

p.R75W

c.223A>T

3 papers

NM_002431.4

p.L79delFs

c.235delC

3 papers

NM_002431.4

p.L184_D185insFs

c.552_553ins4

3 papers

NM_002431.4

p.L235L

c.703C>T

2 papers

NM_002431.4

p.M1V

c.1A>G

2 papers

NM_002431.4

p.Q4Q

c.12G>A

2 papers

NM_002431.4

p.Q4H

c.12G>C

2 papers

NM_002431.4

p.L30Splc

c.90-1G>A

2 papers

NM_002431.4

p.G42R

c.124G>A

2 papers

NM_002431.4

p.G42R

c.124G>C