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.P1288P

c.3864A>G

Surrounding Variants

1 paper

NM_020738.4

p.S1292_E1293delFs

c.3876_3879del4

1 paper

NM_020738.4

p.V1283M

c.3847G>A

1 paper

NM_020738.4

p.S1296G

c.3886A>G

2 papers

NM_020738.4

p.E1280delFs

c.3838delC

1 paper

NM_020738.4

p.E1280fs

c.3838_3839fs

1 paper

NM_020738.4

p.A1279T

c.3835G>A

1 paper

NM_020738.4

p.N1278N

c.3834C>T

4 papers

NM_020738.4

p.A1299G

c.3896C>G

1 paper

NM_020738.4

p.P1300fs

c.3898_3899fs

1 paper

NM_020738.4

p.P1300L

c.3899C>T

1 paper

NM_020738.4

p.P1300delFs

c.3899delG

1 paper

NM_020738.4

p.E1275*

c.3823G>T