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.S43insFs

c.128dupC

Surrounding Variants

1 paper

NM_014361.4

p.S43*

c.128C>A

1 paper

NM_014361.4

p.S43*

c.128C>G

1 paper

NM_014361.4

p.S41*

c.122C>A

1 paper

NM_014361.4

p.S41*

c.122C>G

1 paper

NM_014361.4

p.S40C

c.118A>T

1 paper

NM_014361.4

p.L34delFs

c.101delT

7 papers

NM_014361.4

p.R53*

c.157C>T

1 paper

NM_014361.4

p.R53Q

c.158G>A

1 paper

NM_014361.4

p.S30delFs

c.88_89delTC

1 paper

NM_014361.4

p.S28F

c.83C>T

1 paper

NM_014361.4

p.G26C

c.76G>T

1 paper

NM_014361.4

p.T61A

c.181A>G