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.Y1744F

c.5231A>T

Surrounding Variants

1 paper

NM_020693.4

p.N1742D

c.5224A>G

1 paper

NM_020693.4

p.Q1754R

c.5261A>G

1 paper

NM_020693.4

p.T1768I

c.5303C>T

1 paper

NM_020693.4

p.A1804D

c.5411C>A

1 paper

NM_020693.4

p.G1714E

c.5141G>A

1 paper

NM_020693.4

p.L1820L

c.5458C>T

1 paper

NM_020693.4

p.P1683S

c.5047C>T

2 papers

NM_020693.4

p.V1887M

c.5659G>A

1 paper

NM_020693.4

p.E1667K

c.4999G>A

1 paper

NM_020693.4

p.P1902L

c.5705C>T

1 paper

NM_020693.4

p.Y1937F

c.5810A>T

1 paper

NM_020693.4

p.A1962V

c.5885C>T