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

1 paper

NM_175607.3

p.D324N

c.970G>A

Surrounding Variants

3 papers

NM_175607.3

p.E331G

c.992A>G

1 paper

NM_175607.3

p.F334C

c.1001T>G

1 paper

NM_175607.3

p.C337W

c.1011T>G

1 paper

NM_175607.3

p.A314Splc

c.941-25T>C

1 paper

NM_175607.3

p.R342S

c.1026G>C

1 paper

NM_175607.3

p.R342S

c.1026G>T

1 paper

NM_175607.3

p.P345delFs

c.1033delC

1 paper

NM_175607.3

p.E354K

c.1060G>A

1 paper

NM_175607.3

p.C384Y

c.1151G>A

1 paper

NM_175607.3

p.S395F

c.1184C>T

1 paper

NM_175607.3

p.I402I

c.1206A>T