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.L1537L

c.4611C>G

Surrounding Variants

3 papers

NM_020738.4

p.E1530*

c.4588G>T

1 paper

NM_020738.4

p.A1545V

c.4634C>T

1 paper

NM_020738.4

p.S1526Y

c.4577C>A

1 paper

NM_020738.4

p.R1551fs

c.4651_4652fs

1 paper

NM_020738.4

p.E1523K

c.4567G>A

1 paper

NM_020738.4

p.V1552V

c.4656G>T

1 paper

NM_020738.4

p.P1553S

c.4657C>T

1 paper

NM_020738.4

p.Q1517Q

c.4551A>G

1 paper

NM_020738.4

p.R1515H

c.4544G>A

1 paper

NM_020738.4

p.S1512G

c.4534A>G

1 paper

NM_001348734.2

p.I1507insFs

c.4520dupT

1 paper

NM_020738.4

p.G1511delFs

c.4532delC