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

2 papers

NM_015978.3

p.R629G

c.1885C>G

Surrounding Variants

1 paper

NM_015978.3

p.R629C

c.1885C>T

1 paper

NM_015978.3

p.E634*

c.1900G>T

2 papers

NM_015978.3

p.T637M

c.1910C>T

1 paper

NM_015978.3

p.R641W

c.1921C>T

1 paper

NM_015978.3

p.T660A

c.1978A>G

1 paper

NM_015978.3

p.G661V

c.1982G>T

1 paper

NM_015978.3

p.F665L

c.1993T>C

1 paper

NM_015978.3

p.F665L

c.1995C>A

1 paper

NM_015978.3

p.F665L

c.1995C>G

2 papers

NM_015978.3

p.A666T

c.1996G>A

1 paper

NM_015978.3

p.P670R

c.2009C>G

2 papers

NM_015978.3

p.A671V

c.2012C>T