Varaico: Literature-Extracted Genetic Variants

CNTN5

182 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glyco...

Pfam Domains

Ig_3aa 99–177UCSCImmunoglobulin domain

Ig_3aa 198–273UCSCImmunoglobulin domain

I-setaa 300–386UCSCImmunoglobulin I-set domain

I-setaa 390–475UCSCImmunoglobulin I-set domain

I-setaa 482–568UCSCImmunoglobulin I-set domain

I-setaa 572–667UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

contactin 5

HGNC Alias Symbols

NB-2; hNB-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014361.4

p.C173Y

c.518G>A

Surrounding Variants

1 paper

NM_014361.4

p.T176N

c.527C>A

1 paper

NM_014361.4

p.H170Y

c.508C>T

1 paper

NM_014361.4

p.T178N

c.533C>A

1 paper

NM_014361.4

p.T178I

c.533C>T

1 paper

NM_014361.4

p.G180W

c.538G>T

1 paper

NM_014361.4

p.E164*

c.490G>T

1 paper

NM_014361.4

p.S163S

c.489T>C

1 paper

NM_014361.4

p.S184C

c.550A>T

1 paper

NM_014361.4

p.A187T

c.559G>A

2 papers

NM_014361.4

p.I158M

c.474T>G

1 paper

NM_014361.4

p.Q190L

c.569A>T

1 paper

NM_014361.4

p.T156S

c.467C>G