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.G1446_R1447delFs

c.4338_4341del4

Surrounding Variants

1 paper

NM_020738.4

p.R1447delFs

c.4339delT

1 paper

NM_020738.4

p.V1457F

c.4369G>T

1 paper

NM_020738.4

p.D1438V

c.4313A>T

1 paper

NM_020738.4

p.D1459N

c.4375G>A

1 paper

NM_020738.4

p.Q1433fs

c.4297_4298fs

2 papers

NM_020738.4

p.S1463*

c.4388C>G

1 paper

NM_020738.4

p.S1463*

c.4388C>A

1 paper

NM_020738.4

p.S1463fs

c.4387_4388fs

1 paper

NM_020738.4

p.L1431delFs

c.4293delT

1 paper

NM_020738.4

p.S1463del1

c.4387_4388delTGA

2 papers

NM_020738.4

p.S1463_G1464delFs

c.4389_4390delCT

1 paper

NM_020738.4

p.Y1460_G1464delFs

c.4380_4390del11