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

2 papers

NM_020693.4

p.P1509L

c.4526C>T

Surrounding Variants

2 papers

NM_020693.4

p.W1525*

c.4574G>A

1 paper

NM_020693.4

p.R1550H

c.4649G>A

1 paper

NM_020693.4

p.R1414Q

c.4241G>A

1 paper

NM_020693.4

p.L1601P

c.4802T>C

1 paper

NM_020693.4

p.N1367S

c.4100A>G

1 paper

NM_020693.4

p.L1349L

c.4045C>T

1 paper

NM_020693.4

p.A1331delFs

c.3993delG

1 paper

NM_020693.4

p.E1328K

c.3982G>A

1 paper

NM_020693.4

p.A1288Splc

c.3863-114G>T

1 paper

NM_020693.4

p.E1667K

c.4999G>A

1 paper

NM_020693.4

p.P1683S

c.5047C>T

1 paper

NM_020693.4

p.G1714E

c.5141G>A