Varaico: Literature-Extracted Genetic Variants

TNNI3K

139 papers

RefSeq Summary

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought ...

Pfam Domains

Ank_2aa 45–131UCSCAnkyrin repeats (3 copies)

Ank_2aa 113–197UCSCAnkyrin repeats (3 copies)

Ank_2aa 204–300UCSCAnkyrin repeats (3 copies)

Ank_2aa 292–370UCSCAnkyrin repeats (3 copies)

PK_Tyr_Ser-Thraa 463–719UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

TNNI3 interacting kinase

HGNC Alias Symbol

CARK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_015978.3

p.K111_D112Splc

c.333+2T>C

Surrounding Variants

1 paper

NM_015978.3

p.V109I

c.325G>A

1 paper

NM_015978.3

p.A108E

c.323C>A

1 paper

NM_015978.3

p.T98K

c.293C>A

1 paper

NM_015978.3

p.L97R

c.290T>G

1 paper

NM_015978.3

p.R96*

c.286C>T

1 paper

NM_015978.3

p.R93H

c.278G>A

1 paper

NM_015978.3

p.R93C

c.277C>T

2 papers

NM_015978.3

p.G91R

c.271G>A

1 paper

NM_015978.3

p.G91R

c.271G>C

2 papers

NM_015978.3

p.R85Q

c.254G>A

1 paper

NM_015978.3

p.G79Splc

c.236-1G>A

1 paper

NM_015978.3

p.G78G

c.234A>G