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

3 papers

NM_001130969.3

p.H303H

c.909C>T

Surrounding Variants

1 paper

NM_001130969.3

p.K298R

c.893A>G

1 paper

NM_001130969.3

p.S308Splc

c.922+5G>A

1 paper

NM_015537.5

p.S306Splc

c.917-21G>A

1 paper

NM_001130969.3

p.L318Q

c.953T>A

1 paper

NM_001130969.3

p.E320*

c.958G>T

1 paper

NM_001130969.3

p.T278Splc

c.833-564C>T

1 paper

NM_001130969.3

p.E334insFs

c.1001_1002insC

1 paper

NM_001130969.3

p.A335delFs

c.1004delG

1 paper

NM_001130969.3

p.F343F

c.1029C>T

1 paper

NM_001130969.3

p.L266R

c.797T>G

1 paper

NM_001130969.3

p.F262delFs

c.785delA

1 paper

NM_015537.5

p.M347_L348Splc

c.1042-52C>T