Varaico: Literature-Extracted Genetic Variants

KIDINS220

165 papers

RefSeq Summary

This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasti...

Pfam Domains

Ank_2aa 9–101UCSCAnkyrin repeats (3 copies)

Ank_2aa 60–134UCSCAnkyrin repeats (3 copies)

Ank_2aa 135–200UCSCAnkyrin repeats (3 copies)

Ank_2aa 193–266UCSCAnkyrin repeats (3 copies)

Ank_2aa 258–330UCSCAnkyrin repeats (3 copies)

Ank_2aa 306–396UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

kinase D interacting substrate 220

HGNC Previous Name

kinase D-interacting substrate 220kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020738.4

p.L464*

c.1391T>A

Surrounding Variants

1 paper

NM_020738.4

p.L464*

c.1391T>G

1 paper

NM_020738.4

p.P459S

c.1375C>T

1 paper

NM_020738.4

p.G471W

c.1411G>T

1 paper

NM_020738.4

p.Q457Q

c.1371G>A

4 papers

NM_020738.4

p.Q457*

c.1369C>T

1 paper

NM_020738.4

p.S473S

c.1419T>C

1 paper

NM_020738.4

p.I450V

c.1348A>G

1 paper

NM_020738.4

p.S445R

c.1335T>G

1 paper

NM_020738.4

p.S445R

c.1335T>A

1 paper

NM_020738.4

p.S445R

c.1333A>C

3 papers

NM_020738.4

p.T433T

c.1299A>G

1 paper

NM_020738.4

p.D481Splc

c.1441+47T>C