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.G50D

c.149G>A

Surrounding Variants

1 paper

NM_002431.4

p.P52T

c.154C>A

1 paper

NM_002431.4

p.P52S

c.154C>T

1 paper

NM_002431.4

p.L53insFs

c.158_159ins4

2 papers

NM_002431.4

p.P47S

c.139C>T

1 paper

NM_002431.4

p.C46Y

c.137G>A

1 paper

NM_002431.4

p.K55E

c.163A>G

1 paper

NM_002431.4

p.S56_L62del0

c.168_185del18

1 paper

NM_002431.4

p.G44R

c.130G>C

1 paper

NM_002431.4

p.A43A

c.129T>C

1 paper

NM_002431.4

p.G44insFs

c.131dupG

1 paper

NM_002431.4

p.N57_F58insFs

c.171_172insTT

1 paper

NM_002431.4

p.G42V

c.125G>T