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.E1086G

c.3257A>G

Surrounding Variants

3 papers

NM_020738.4

p.H1085R

c.3254A>G

1 paper

NM_020738.4

p.P1083R

c.3248C>G

1 paper

NM_020738.4

p.L1082fs

c.3244_3245fs

1 paper

NM_020738.4

p.A1091S

c.3271G>T

1 paper

NM_020738.4

p.P1081_L1082insFs

c.3243_3244insC

1 paper

NM_020738.4

p.P1081P

c.3243G>A

1 paper

NM_020738.4

p.P1081delFs

c.3242delG

1 paper

NM_020738.4

p.Y1079C

c.3236A>G

1 paper

NM_020738.4

p.S1093S

c.3279A>T

1 paper

NM_020738.4

p.A1078A

c.3234G>A

1 paper

NM_020738.4

p.G1076G

c.3228A>G

1 paper

NM_020738.4

p.I1072I

c.3216C>A