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

10 papers

NM_015978.3

p.I686T

c.2057T>C

Surrounding Variants

1 paper

NM_015978.3

p.R683G

c.2047A>G

1 paper

NM_015978.3

p.L698L

c.2092C>T

1 paper

NM_015978.3

p.A674E

c.2021C>A

1 paper

NM_015978.3

p.A673V

c.2018C>T

1 paper

NM_015978.3

p.R700*

c.2098C>T

1 paper

NM_015978.3

p.A671A

c.2013G>A

2 papers

NM_015978.3

p.A671V

c.2012C>T

1 paper

NM_015978.3

p.W702*

c.2105G>A

1 paper

NM_015978.3

p.W702*

c.2106G>A