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.S511P

c.1531T>C

Surrounding Variants

1 paper

NM_015978.3

p.I512L

c.1534A>C

1 paper

NM_015978.3

p.I512F

c.1534A>T

3 papers

NM_015978.3

p.V510L

c.1528G>C

3 papers

NM_015978.3

p.V510L

c.1528G>T

2 papers

NM_015978.3

p.I512T

c.1535T>C

1 paper

NM_015978.3

p.L513F

c.1537C>T

4 papers

NM_015978.3

p.L513P

c.1538T>C

2 papers

NM_015978.3

p.R508Q

c.1523G>A

1 paper

NM_015978.3

p.R508G

c.1522C>G

1 paper

NM_015978.3

p.C514G

c.1540T>G

1 paper

NM_015978.3

p.H518R

c.1553A>G

1 paper

NM_015978.3

p.V521I

c.1561G>A