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.G782R

c.2344G>C

Surrounding Variants

1 paper

NM_014361.4

p.G782R

c.2344G>A

1 paper

NM_014361.4

p.L790I

c.2368T>A

2 papers

NM_014361.4

p.E805D

c.2415A>C

2 papers

NM_014361.4

p.E805D

c.2415A>T

1 paper

NM_014361.4

p.R837*

c.2509C>T

1 paper

NM_014361.4

p.R837Q

c.2510G>A

1 paper

NM_014361.4

p.P843S

c.2527C>T

3 papers

NM_014361.4

p.V853I

c.2557G>A

1 paper

NM_014361.4

p.N855D

c.2563A>G

1 paper

NM_014361.4

p.N856K

c.2568T>A

1 paper

NM_014361.4

p.N856K

c.2568T>G

1 paper

NM_014361.4

p.A871P

c.2611G>C