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.R24Splc

c.71+37T>C

Surrounding Variants

1 paper

NM_001130969.3

p.R24Splc

c.71+9G>A

1 paper

NM_001130969.3

p.R24Splc

c.71+1G>A

3 papers

NM_001130969.3

p.E14_K22del9

c.40_65del27

1 paper

NM_001130969.3

p.S18*

c.53C>A

1 paper

NM_001130969.3

p.S13R

c.39C>A

3 papers

NM_001130969.3

p.A5_R8del0

c.14_22del9

1 paper

NM_001130969.3

p.R7S

c.21G>C

1 paper

NM_001130969.3

p.M1T

c.2T>C

1 paper

NM_001130969.3

p.M1K

c.2T>A

1 paper

NM_001130969.3

p.A26V

c.77C>T

2 papers

NM_001130969.3

p.R27G

c.79C>G

1 paper

NM_001130969.3

p.E31Q

c.91G>C