Varaico: Literature-Extracted Genetic Variants

DSCAML1

93 papers

RefSeq Summary

The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surf...

Pfam Domains

I-setaa 226–311UCSCImmunoglobulin I-set domain

I-setaa 315–402UCSCImmunoglobulin I-set domain

I-setaa 408–502UCSCImmunoglobulin I-set domain

Ig_3aa 505–577UCSCImmunoglobulin domain

Ig_3aa 596–673UCSCImmunoglobulin domain

Ig_3aa 689–771UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

DS cell adhesion molecule like 1

HGNC Alias Symbol

KIAA1132

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020693.4

p.A55E

c.164C>A

Surrounding Variants

2 papers

NM_020693.4

p.V44_A49del6

c.130_146del18

1 paper

NM_020693.4

p.P48R

c.143C>G

1 paper

NM_020693.4

p.T81R

c.242C>G

1 paper

NM_020693.4

p.L25F

c.73C>T

1 paper

NM_020693.4

p.F87insFs

c.261dupC

1 paper

NM_020693.4

p.R118H

c.353G>A

1 paper

NM_020693.4

p.P149S

c.445C>T

1 paper

NM_020693.4

p.P149A

c.445C>G

1 paper

NM_020693.4

p.P149P

c.447C>T