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

1–12 of 128 variants

4 papers

NM_001130969.3

p.R196H

c.587G>A

3 papers

NM_001130969.3

p.A5_R8del0

c.14_22del9

3 papers

NM_001130969.3

p.E14_K22del9

c.40_65del27

3 papers

NM_001130969.3

p.L173R

c.518T>G

3 papers

NM_001130969.3

p.D253N

c.757G>A

3 papers

NM_001130969.3

p.H303H

c.909C>T

3 papers

NM_001130969.3

p.T480A

c.1438A>G

2 papers

NM_001130969.3

p.R27G

c.79C>G

2 papers

NM_001130969.3

p.D45Splc

c.134-4C>T

2 papers

NM_001130969.3

p.P63L

c.188C>T

2 papers

NM_001130969.3

p.L71Q

c.212T>A

2 papers

NM_001130969.3

p.L73F

c.217C>T