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.K1482E

c.4444A>G

Surrounding Variants

1 paper

NM_020738.4

p.K1482fs

c.4444_4445fs

2 papers

NM_020738.4

p.K1482delFs

c.4446delT

6 papers

NM_020738.4

p.S1483*

c.4448C>G

5 papers

NM_020738.4

p.S1483*

c.4448C>A

1 paper

NM_020738.4

p.D1484H

c.4450G>C

2 papers

NM_020738.4

p.L1473insFs

c.4417dupC

1 paper

NM_020738.4

p.L1473delFs

c.4417delG

1 paper

NM_020738.4

p.L1473fs

c.4417_4418fs

1 paper

NM_001348736.2

p.P1393S

c.4177C>T

2 papers

NM_020738.4

p.R1499fs

c.4495_4496fs

2 papers

NM_020738.4

p.S1463_G1464delFs

c.4389_4390delCT

1 paper

NM_020738.4

p.Y1460_G1464delFs

c.4380_4390del11