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.L1473delFs

c.4417delG

Surrounding Variants

2 papers

NM_020738.4

p.L1473insFs

c.4417dupC

1 paper

NM_020738.4

p.L1473fs

c.4417_4418fs

1 paper

NM_020738.4

p.K1482E

c.4444A>G

1 paper

NM_020738.4

p.K1482fs

c.4444_4445fs

2 papers

NM_020738.4

p.S1463_G1464delFs

c.4389_4390delCT

1 paper

NM_020738.4

p.Y1460_G1464delFs

c.4380_4390del11

1 paper

NM_020738.4

p.S1463del1

c.4387_4388delTGA

2 papers

NM_020738.4

p.K1482delFs

c.4446delT

1 paper

NM_020738.4

p.S1463fs

c.4387_4388fs

6 papers

NM_020738.4

p.S1483*

c.4448C>G

2 papers

NM_020738.4

p.S1463*

c.4388C>G

5 papers

NM_020738.4

p.S1483*

c.4448C>A