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.S237Splc

c.711-2A>G

Surrounding Variants

1 paper

NM_015537.5

p.F237F

c.711C>T

1 paper

NM_001130969.3

p.Y242C

c.725A>G

1 paper

NM_001130969.3

p.A243T

c.727G>A

1 paper

NM_001130969.3

p.A243V

c.728C>T

1 paper

NM_001130969.3

p.E244K

c.730G>A

1 paper

NM_001130969.3

p.R248Q

c.743G>A

2 papers

NM_015537.5

p.R248Q

c.743G>A

NM_001130969.3

p.R250Q

c.749G>A

3 papers

NM_001130969.3

p.D253N

c.757G>A

1 paper

NM_001130969.3

p.S254P

c.760T>C

3 papers

NM_015537.5

p.A253T

c.757G>A

NM_001130969.3

p.A255T

c.763G>A

1 paper

NM_001130969.3

p.R260Splc

c.779+5G>C

1 paper

NM_015537.5

p.A235Splc

c.705-311G>C