Varaico: Literature-Extracted Genetic Variants

NSMF

129 papers

RefSeq Summary

The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hy...

Pfam Domains

IQ_SCN5A_Caa 246–278UCSCSCN5A-like, C-terminal IQ motif

Gene Aliases

HGNC Name

NMDA receptor synaptonuclear signaling and neuronal migration factor

HGNC Previous Symbol

NELF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130969.3

p.H55R

c.164A>G

Surrounding Variants

1 paper

NM_001130969.3

p.H55delFs

c.163delG

1 paper

NM_001130969.3

p.G54D

c.161G>A

1 paper

NM_001130969.3

p.L48Q

c.143T>A

1 paper

NM_001130969.3

p.P63S

c.187C>T

2 papers

NM_001130969.3

p.P63L

c.188C>T

1 paper

NM_001130969.3

p.A64G

c.191C>G

1 paper

NM_001130969.3

p.Q66*

c.196C>T

2 papers

NM_001130969.3

p.D45Splc

c.134-4C>T

1 paper

NM_001130969.3

p.N67S

c.200A>G

2 papers

NM_001130969.3

p.L71Q

c.212T>A

2 papers

NM_001130969.3

p.L73F

c.217C>T

1 paper

NM_001130969.3

p.S75F

c.224C>T