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.I522F

c.1564A>T

Surrounding Variants

1 paper

NM_015978.3

p.V521I

c.1561G>A

1 paper

NM_015978.3

p.V525M

c.1573G>A

1 paper

NM_015978.3

p.H518R

c.1553A>G

2 papers

NM_015978.3

p.G526C

c.1576G>T

18 papers

NM_015978.3

p.G526D

c.1577G>A

1 paper

NM_015978.3

p.C514G

c.1540T>G

4 papers

NM_015978.3

p.L513P

c.1538T>C

1 paper

NM_015978.3

p.L513F

c.1537C>T

2 papers

NM_015978.3

p.I512T

c.1535T>C

1 paper

NM_015978.3

p.I512L

c.1534A>C

1 paper

NM_015978.3

p.I512F

c.1534A>T

1 paper

NM_015978.3

p.P532L

c.1595C>T