Varaico: Literature-Extracted Genetic Variants

NFASC

166 papers

RefSeq Summary

This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of...

Pfam Domains

Ig_3aa 34–116UCSCImmunoglobulin domain

igaa 142–216UCSCImmunoglobulin domain

I-setaa 260–344UCSCImmunoglobulin I-set domain

Ig_3aa 348–423UCSCImmunoglobulin domain

I-setaa 444–529UCSCImmunoglobulin I-set domain

I-setaa 533–620UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

neurofascin

HGNC Alias Symbols

NRCAML; KIAA0756; FLJ46866

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001160331.2

p.P939T

c.2815C>A

Surrounding Variants

1 paper

NM_001160331.2

p.P939delFs

c.2816delC

NM_001160332.2

p.P924delFs

c.2771delC

1 paper

NM_001005388.3

p.F831L

c.2491T>C

1 paper

NM_001005388.3

p.F831F

c.2493C>T

1 paper

NM_001005388.3

p.R834P

c.2501G>C

1 paper

NM_001160332.2

p.P939delFs

c.2816delC

1 paper

NM_001160332.2

p.P939T

c.2815C>A

3 papers

NM_015090.4

p.R831*

c.2491C>T

NM_001005388.3

p.L824Splc

c.2470+2039C>T

NM_001160332.2

p.R846*

c.2536C>T

1 paper

NM_001005388.3

p.G867W

c.2599G>T

1 paper

NM_001005388.3

p.G871R

c.2611G>A

1 paper

NM_001005388.3

p.G871R

c.2611G>C

1 paper

NM_001005388.3

p.R895C

c.2683C>T

1 paper

NM_001160332.2

p.Y820H

c.2458T>C