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

3 papers

NM_001130969.3

p.L173R

c.518T>G

Surrounding Variants

1 paper

NM_001130969.3

p.A174V

c.521C>T

1 paper

NM_001130969.3

p.P175P

c.525T>A

2 papers

NM_001130969.3

p.A171T

c.511G>A

1 paper

NM_001130969.3

p.T178N

c.533C>A

1 paper

NM_001130969.3

p.C167Y

c.500G>A

1 paper

NM_001130969.3

p.R180Q

c.539G>A

1 paper

NM_001130969.3

p.E166G

c.497A>G

1 paper

NM_001130969.3

p.S160T

c.479G>C

1 paper

NM_001130969.3

p.P188L

c.563C>T

1 paper

NM_001130969.3

p.T192S

c.574A>T

4 papers

NM_001130969.3

p.R196H

c.587G>A

1 paper

NM_001130969.3

p.S146T

c.437G>C