Varaico: Literature-Extracted Genetic Variants

CNTN4

130 papers

RefSeq Summary

This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded pr...

Pfam Domains

I-setaa 26–118UCSCImmunoglobulin I-set domain

Ig_3aa 124–198UCSCImmunoglobulin domain

Ig_3aa 224–299UCSCImmunoglobulin domain

I-setaa 316–401UCSCImmunoglobulin I-set domain

I-setaa 406–494UCSCImmunoglobulin I-set domain

Ig_3aa 497–579UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

contactin 4

HGNC Alias Symbol

BIG-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_175607.3

p.P146L

c.437C>T

Surrounding Variants

1 paper

NM_175607.3

p.P148L

c.443C>T

1 paper

NM_175607.3

p.S150Y

c.449C>A

1 paper

NM_175607.3

p.L142I

c.424C>A

1 paper

NM_175607.3

p.E152Splc

c.454+1G>A

1 paper

NM_175607.3

p.G139R

c.415G>A

1 paper

NM_175607.3

p.G139R

c.415G>C

1 paper

NM_175607.3

p.G137D

c.410G>A

1 paper

NM_175607.3

p.V132A

c.395T>C

1 paper

NM_175607.3

p.K125N

c.375A>T

1 paper

NM_175607.3

p.L121I

c.361C>A