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.G78G

c.234A>G

Surrounding Variants

1 paper

NM_015978.3

p.G78fs

c.232_233fs

1 paper

NM_015978.3

p.G78fs

c.232_233fs

2 papers

NM_015978.3

p.G78delFs

c.232delG

1 paper

NM_015978.3

p.L71P

c.212T>C

1 paper

NM_015978.3

p.E65*

c.193G>T

1 paper

NM_015978.3

p.R63H

c.188G>A

1 paper

NM_015978.3

p.N59D

c.175A>G

1 paper

NM_015978.3

p.D52A

c.155A>C

1 paper

NM_015978.3

p.G79Splc

c.236-1G>A

2 papers

NM_015978.3

p.R85Q

c.254G>A

2 papers

NM_015978.3

p.G91R

c.271G>A

1 paper

NM_015978.3

p.G91R

c.271G>C