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.S1598S

c.4794T>C

Surrounding Variants

1 paper

NM_020738.4

p.D1605N

c.4813G>A

1 paper

NM_001348736.2

p.D1507insFs

c.4520dupA

1 paper

NM_020738.4

p.Q1608*

c.4822C>T

7 papers

NM_020738.4

p.Q1608H

c.4824G>T

6 papers

NM_020738.4

p.Q1608H

c.4824G>C

1 paper

NM_020738.4

p.S1584L

c.4751C>T

1 paper

NM_020738.4

p.K1581E

c.4741A>G

1 paper

NM_020738.4

p.L1617M

c.4849C>A

1 paper

NM_020738.4

p.D1579E

c.4737C>G

1 paper

NM_020738.4

p.D1579E

c.4737C>A

1 paper

NM_020738.4

p.L1577Fs

c.4730_4731delinsTGTATAFs

4 papers

NM_020738.4

p.A1576V

c.4727C>T