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

1–12 of 230 variants

20 papers

NM_015978.3

p.E768K

c.2302G>A

18 papers

NM_015978.3

p.G526D

c.1577G>A

15 papers

NM_015978.3

p.T539A

c.1615A>G

14 papers

NM_015978.3

p.K111_D112Splc

c.333+2T>C

10 papers

NM_015978.3

p.I686T

c.2057T>C

5 papers

NM_015978.3

p.H592Y

c.1774C>T

4 papers

NM_015978.3

p.R481*

c.1441C>T

4 papers

NM_015978.3

p.L513P

c.1538T>C

3 papers

NM_015978.3

p.K490R

c.1469A>G

3 papers

NM_015978.3

p.V510L

c.1528G>C

3 papers

NM_015978.3

p.V510L

c.1528G>T

3 papers

NM_015978.3

p.M574I

c.1722G>A