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

5 papers

NM_014361.4

p.S1079T

c.3235T>A

Surrounding Variants

1 paper

NM_014361.4

p.A1073T

c.3217G>A

1 paper

NM_014361.4

p.G1068E

c.3203G>A

1 paper

NM_014361.4

p.M1094L

c.3280A>C

1 paper

NM_014361.4

p.M1094V

c.3280A>G

1 paper

NM_014361.4

p.M1094L

c.3280A>T

1 paper

NM_014361.4

p.W1100fs

c.3298_3299fs

1 paper

NM_014361.4

p.S1064*

c.3191C>A

1 paper

NM_014361.4

p.S1064*

c.3191C>G

1 paper

NM_014361.4

p.S1064L

c.3191C>T

1 paper

NM_014361.4

p.P1063_Y1065del3

c.3187_3194del9

1 paper

NM_014361.4

p.I1060L

c.3178A>C

2 papers

NM_014361.4

p.Y1041C

c.3122A>G