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

8 papers

NM_020738.4

p.W1350*

c.4049G>A

Surrounding Variants

9 papers

NM_020738.4

p.W1350*

c.4050G>A

1 paper

NM_001348729.2

p.Q1352_S1353Splc

c.4056+1G>T

1 paper

NM_020738.4

p.A1342T

c.4024G>A

1 paper

NM_020738.4

p.Q1351_S1352Splc

c.4053+24A>G

1 paper

NM_001348735.2

p.G1280delFs

c.3838delC

1 paper

NM_020738.4

p.T1335T

c.4005G>C

1 paper

NM_020738.4

p.T1335M

c.4004C>T

1 paper

NM_020738.4

p.Q1351_S1352Splc

c.4053+48G>A

1 paper

NM_020738.4

p.L1333L

c.3997C>T

1 paper

NM_020738.4

p.E1332*

c.3994G>T

1 paper

NM_020738.4

p.S1329T

c.3986G>C

1 paper

NM_020738.4

p.T1325T

c.3975A>G