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

1–12 of 247 variants

11 papers

NM_014361.4

p.S23A

c.67T>G

10 papers

NM_014361.4

p.L70R

c.209T>G

10 papers

NM_014361.4

p.N81S

c.242A>G

7 papers

NM_014361.4

p.R53*

c.157C>T

5 papers

NM_014361.4

p.S1079T

c.3235T>A

4 papers

NM_014361.4

p.V935I

c.2803G>A

3 papers

NM_014361.4

p.V853I

c.2557G>A

3 papers

NM_014361.4

p.L1000S

c.2999T>C

2 papers

NM_014361.4

p.W69G

c.205T>G

2 papers

NM_014361.4

p.I158M

c.474T>G

2 papers

NM_014361.4

p.R244W

c.730C>T

2 papers

NM_014361.4

p.L254F

c.760C>T