Varaico: Literature-Extracted Genetic Variants

DSCAM

486 papers

RefSeq Summary

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for D...

Pfam Domains

I-setaa 225–310UCSCImmunoglobulin I-set domain

I-setaa 314–401UCSCImmunoglobulin I-set domain

Ig_3aa 406–488UCSCImmunoglobulin domain

I-setaa 504–595UCSCImmunoglobulin I-set domain

I-setaa 596–686UCSCImmunoglobulin I-set domain

Ig_3aa 689–770UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

DS cell adhesion molecule

HGNC Alias Symbols

CHD2-42; CHD2-52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001389.5

p.L1546L

c.4636C>T

Surrounding Variants

1 paper

NM_001389.5

p.R1549W

c.4645C>T

1 paper

NM_001389.5

p.E1540E

c.4620A>G

1 paper

NM_001389.5

p.A1554A

c.4662G>A

1 paper

NM_001389.5

p.D1537N

c.4609G>A

1 paper

NM_001389.5

p.T1565M

c.4694C>T

1 paper

NM_001389.5

p.Q1525*

c.4573C>T

1 paper

NM_001389.5

p.D1569Y

c.4705G>T

1 paper

NM_001389.5

p.V1520delFs

c.4560delA

1 paper

NM_001389.5

p.F1516L

c.4548T>G

1 paper

NM_001389.5

p.F1516L

c.4548T>A

1 paper

NM_001389.5

p.F1516L

c.4546T>C

1 paper

NM_001389.5

p.F1509F

c.4527C>T