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.G1424delFs

c.4271delC

Surrounding Variants

1 paper

NM_020738.4

p.G1425C

c.4273G>T

1 paper

NM_020738.4

p.S1426delFs

c.4276delA

1 paper

NM_020738.4

p.S1426fs

c.4276_4277fs

1 paper

NM_020738.4

p.G1424fs

c.4270_4271fs

1 paper

NM_020738.4

p.S1426insFs

c.4277_4278dupCT

1 paper

NM_020738.4

p.G1424W

c.4270G>T

1 paper

NM_020738.4

p.S1423S

c.4269A>G

1 paper

NM_020738.4

p.S1421N

c.4262G>A

1 paper

NM_020738.4

p.L1431delFs

c.4293delT

1 paper

NM_020738.4

p.G1419R

c.4255G>C

1 paper

NM_020738.4

p.Q1433fs

c.4297_4298fs

1 paper

NM_020738.4

p.T1415I

c.4244C>T