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.H379Y

c.1135C>T

Surrounding Variants

1 paper

NM_001130969.3

p.I387delFs

c.1161delG

1 paper

NM_001130969.3

p.E389Splc

c.1166-46T>G

1 paper

NM_015537.5

p.E387Splc

c.1160-13C>T

1 paper

NM_001130969.3

p.R367W

c.1099C>T

1 paper

NM_001130969.3

p.I365_R366insA

c.1093_1097ins3

1 paper

NM_001130969.3

p.S353P

c.1057T>C

1 paper

NM_015537.5

p.M347_L348Splc

c.1042-52C>T

1 paper

NM_001130969.3

p.F343F

c.1029C>T

1 paper

NM_001130969.3

p.A335delFs

c.1004delG

1 paper

NM_001130969.3

p.E334insFs

c.1001_1002insC

1 paper

NM_001130969.3

p.E320*

c.958G>T

1 paper

NM_001130969.3

p.L318Q

c.953T>A