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

3 papers

NM_015978.3

p.K490R

c.1469A>G

Surrounding Variants

1 paper

NM_015978.3

p.R491C

c.1471C>T

1 paper

NM_015978.3

p.V487L

c.1459G>C

1 paper

NM_015978.3

p.V487L

c.1459G>T

1 paper

NM_015978.3

p.N484Y

c.1450A>T

4 papers

NM_015978.3

p.R481*

c.1441C>T

1 paper

NM_015978.3

p.K479delFs

c.1437delA

1 paper

NM_015978.3

p.T496N

c.1487C>A

1 paper

NM_015978.3

p.S501T

c.1501T>A

1 paper

NM_015978.3

p.I463M

c.1389T>G

1 paper

NM_015978.3

p.R508G

c.1522C>G

2 papers

NM_015978.3

p.R508Q

c.1523G>A

3 papers

NM_015978.3

p.V510L

c.1528G>C