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

1 paper

NM_015978.3

p.E768Q

c.2302G>C

Surrounding Variants

20 papers

NM_015978.3

p.E768K

c.2302G>A

1 paper

NM_015978.3

p.R766P

c.2297G>C

1 paper

NM_015978.3

p.E770V

c.2309A>T

1 paper

NM_015978.3

p.L773I

c.2317C>A

1 paper

NM_015978.3

p.R757Q

c.2270G>A

1 paper

NM_015978.3

p.R757W

c.2269C>T

1 paper

NM_015978.3

p.A780T

c.2338G>A

1 paper

NM_015978.3

p.G753A

c.2258G>C

1 paper

NM_015978.3

p.S784G

c.2350A>G

2 papers

NM_015978.3

p.R752W

c.2254C>T

1 paper

NM_015978.3

p.D747N

c.2239G>A

2 papers

NM_015978.3

p.P742L

c.2225C>T