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.S1709delFs

c.5125_5126delGA

Surrounding Variants

1 paper

NM_020738.4

p.Q1710*

c.5128C>T

1 paper

NM_020738.4

p.Q1710E

c.5128C>G

1 paper

NM_020738.4

p.L1713L

c.5137T>C

1 paper

NM_020738.4

p.P1715S

c.5143C>T

1 paper

NM_020738.4

p.S1717S

c.5151C>T

1 paper

NM_020738.4

p.N1698D

c.5092A>G

1 paper

NM_020738.4

p.N1693fs

c.5077_5078fs

1 paper

NM_020738.4

p.S1689T

c.5066G>C

4 papers

NM_020738.4

p.R1736*

c.5206C>T

1 paper

NM_020738.4

p.R1736Q

c.5207G>A

3 papers

NM_020738.4

p.V1683M

c.5047G>A

1 paper

NM_020738.4

p.R1739H

c.5216G>A