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.N178D

c.532A>G

Surrounding Variants

1 paper

NM_175607.3

p.N178S

c.533A>G

1 paper

NM_175607.3

p.T176A

c.526A>G

1 paper

NM_175607.3

p.V172L

c.514G>C

1 paper

NM_175607.3

p.R170C

c.508C>T

1 paper

NM_175607.3

p.N168S

c.503A>G

1 paper

NM_175607.3

p.D167E

c.501T>A

1 paper

NM_175607.3

p.D167E

c.501T>G

1 paper

NM_175607.3

p.G190G

c.570G>A

1 paper

NM_175607.3

p.I158V

c.472A>G

1 paper

NM_175607.3

p.W157*

c.471G>A

1 paper

NM_175607.3

p.W157*

c.470G>A

1 paper

NM_175607.3

p.K204Q

c.610A>C