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.D619G

c.1856A>G

Surrounding Variants

1 paper

NM_015978.3

p.E618D

c.1854A>C

1 paper

NM_015978.3

p.E618D

c.1854A>T

1 paper

NM_015978.3

p.K623Q

c.1867A>C

1 paper

NM_015978.3

p.S615T

c.1843T>A

1 paper

NM_015978.3

p.G608E

c.1823G>A

1 paper

NM_015978.3

p.D606E

c.1818T>A

1 paper

NM_015978.3

p.D606E

c.1818T>G

1 paper

NM_015978.3

p.L595V

c.1783C>G

5 papers

NM_015978.3

p.H592Y

c.1774C>T

2 papers

NM_015978.3

p.R629G

c.1885C>G

1 paper

NM_015978.3

p.R629C

c.1885C>T

1 paper

NM_015978.3

p.E634*

c.1900G>T