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.P1750L

c.5249C>T

Surrounding Variants

1 paper

NM_020738.4

p.P1750P

c.5250G>A

2 papers

NM_020738.4

p.D1748Y

c.5242G>T

1 paper

NM_020738.4

p.K1747E

c.5239A>G

1 paper

NM_020738.4

p.R1744T

c.5231G>C

2 papers

NM_020738.4

p.S1741C

c.5221A>T

3 papers

NM_020738.4

p.S1740*

c.5219C>G

3 papers

NM_020738.4

p.S1740*

c.5219C>A

1 paper

NM_020738.4

p.R1739H

c.5216G>A

1 paper

NM_020738.4

p.T1761I

c.5282C>T

1 paper

NM_020738.4

p.R1736Q

c.5207G>A

4 papers

NM_020738.4

p.R1736*

c.5206C>T

1 paper

NM_020738.4

p.R1767K

c.5300G>A