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.L235P

c.704T>C

Surrounding Variants

3 papers

NM_002431.4

p.L235L

c.703C>T

1 paper

NM_002431.4

p.P237S

c.709C>T

1 paper

NM_002431.4

p.P237L

c.710C>T

1 paper

NM_002431.4

p.P237_I238insFs

c.711_712insGG

1 paper

NM_002431.4

p.H239insFs

c.716dupA

1 paper

NM_002431.4

p.G230_S234delins

c.690_702delinsCACCTGAACCCCC

2 papers

NM_002431.4

p.G230R

c.688G>C

1 paper

NM_002431.4

p.L241_E242insFs

c.723_724insTT

1 paper

NM_002431.4

p.L241F

c.721C>T

1 paper

NM_002431.4

p.E243G

c.728A>G

1 paper

NM_002431.4

p.E243E

c.729A>G

1 paper

NM_002431.4

p.A244G

c.731C>G