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

2 papers

NM_014361.4

p.L254F

c.760C>T

Surrounding Variants

1 paper

NM_014361.4

p.S262S

c.786A>T

1 paper

NM_014361.4

p.R244Q

c.731G>A

1 paper

NM_014361.4

p.V264_S266del3

c.790_797del9

2 papers

NM_014361.4

p.R244W

c.730C>T

1 paper

NM_014361.4

p.V264_G265insAAC

c.790_794ins9

1 paper

NM_014361.4

p.S243R

c.727A>C

1 paper

NM_014361.4

p.D242Y

c.724G>T

1 paper

NM_014361.4

p.L270V

c.808C>G

1 paper

NM_014361.4

p.T276M

c.827C>T

1 paper

NM_014361.4

p.T276T

c.828G>A

1 paper

NM_014361.4

p.N277T

c.830A>C

1 paper

NM_014361.4

p.S229R

c.687C>A