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.S146T

c.437G>C

Surrounding Variants

1 paper

NM_001130969.3

p.S142N

c.425G>A

1 paper

NM_001130969.3

p.A141T

c.421G>A

1 paper

NM_001130969.3

p.Q137P

c.410A>C

1 paper

NM_001130969.3

p.Q137*

c.409C>T

1 paper

NM_001130969.3

p.S160T

c.479G>C

1 paper

NM_001130969.3

p.Q129R

c.386A>G

1 paper

NM_001130969.3

p.R128W

c.382C>T

2 papers

NM_001130969.3

p.R127G

c.379C>G

1 paper

NM_001130969.3

p.E166G

c.497A>G

1 paper

NM_001130969.3

p.C167Y

c.500G>A

1 paper

NM_001130969.3

p.V124A

c.371T>C

1 paper

NM_001130969.3

p.A122V

c.365C>T