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

1–12 of 534 variants

9 papers

NM_020738.4

p.W1350*

c.4050G>A

9 papers

NM_020738.4

p.Q1366*

c.4096C>T

8 papers

NM_020738.4

p.W1350*

c.4049G>A

8 papers

NM_020738.4

p.L1507fs

c.4519_4520fs

7 papers

NM_020738.4

p.Q1608H

c.4824G>T

6 papers

NM_020738.4

p.Q1132fs

c.3394_3395fs

6 papers

NM_020738.4

p.Q1132_F1135delFs

c.3394_3403del10

6 papers

NM_020738.4

p.S1483*

c.4448C>G

6 papers

NM_020738.4

p.Q1608H

c.4824G>C

5 papers

NM_020738.4

p.S1483*

c.4448C>A

5 papers

NM_020738.4

p.L1507insFs

c.4520dupT

4 papers

NM_020738.4

p.Q457*

c.1369C>T