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.Y1009H

c.3025T>C

Surrounding Variants

1 paper

NM_014361.4

p.E1003A

c.3008A>C

3 papers

NM_014361.4

p.L1000S

c.2999T>C

1 paper

NM_014361.4

p.W994*

c.2981G>A

1 paper

NM_014361.4

p.G957*

c.2869G>T

1 paper

NM_014361.4

p.G955G

c.2865A>G

1 paper

NM_014361.4

p.T944T

c.2832G>A

1 paper

NM_014361.4

p.T944_G959del16

c.2830_2876del48

4 papers

NM_014361.4

p.V935I

c.2803G>A

2 papers

NM_014361.4

p.S933F

c.2798C>T

1 paper

NM_014361.4

p.V926A

c.2777T>C

1 paper

NM_014361.4

p.V1011D

c.3032T>A

1 paper

NM_014361.4

p.S1019R

c.3055A>C