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.S1395F

c.4184C>T

Surrounding Variants

1 paper

NM_020738.4

p.Q1393_M1394delFs

c.4179_4180delTC

1 paper

NM_020738.4

p.Q1393fs

c.4177_4178fs

4 papers

NM_020738.4

p.Q1393*

c.4177C>T

2 papers

NM_020738.4

p.I1391_A1392delFs

c.4171_4175del5

1 paper

NM_020738.4

p.E1398G

c.4193A>G

1 paper

NM_020738.4

p.I1391fs

c.4171_4172fs

1 paper

NM_020738.4

p.G1400delFs

c.4199delC

1 paper

NM_020738.4

p.P1401P

c.4203C>T

1 paper

NM_020738.4

p.S1407_G1408delFs

c.4221_4222delCA

1 paper

NM_020738.4

p.E1382*

c.4144G>T

2 papers

NM_020738.4

p.Q1380*

c.4138C>T

1 paper

NM_001348736.2

p.V1280delFs

c.3838delC