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

2 papers

NM_001130969.3

p.N477D

c.1429A>G

Surrounding Variants

4 papers

NM_015537.5

p.T478A

c.1432A>G

NM_001130969.3

p.T480A

c.1438A>G

2 papers

NM_015537.5

p.M480V

c.1438A>G

1 paper

NM_001130969.3

p.A497insFs

c.1491dupC

2 papers

NM_001130969.3

p.G499Splc

c.1495+41G>A

NM_015537.5

p.G497Splc

c.1489+41G>A

1 paper

NM_001130969.3

p.K500N

c.1500G>C

1 paper

NM_001130969.3

p.T505M

c.1514C>T

1 paper

NM_001130969.3

p.D508E

c.1524C>A

1 paper

NM_001130969.3

p.F509L

c.1525T>C

1 paper

NM_001130969.3

p.K473_L474Splc

c.1419+47C>T

1 paper

NM_001130969.3

p.V457I

c.1369G>A

1 paper

NM_001130969.3

p.R446H

c.1337G>A

1 paper

NM_001130969.3

p.L421F

c.1261C>T