Varaico: Literature-Extracted Genetic Variants

Gene:NTN1
Variant:p.S214A

NTN1

113 papers

RefSeq Summary

Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration ...

Pfam Domains

Laminin_Naa 51–283UCSCLaminin N-terminal (Domain VI)
EGF_LMN_ATRNaa 285–331UCSCLaminin/attractin EGF domain
EGF_lamininaa 341–401UCSCLaminin EGF domain
EGF_lamininaa 404–451UCSCLaminin EGF domain
NTRaa 488–594UCSCUNC-6/NTR/C345C module

Gene Aliases

HGNC Name

netrin 1

HGNC Alias Symbol

NTN1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004822.3
p.S214A
c.640T>G
Surrounding Variants
1 paper
NM_004822.3
p.L217F
c.649C>T
2 papers
NM_004822.3
p.M210V
c.628A>G
1 paper
NM_004822.3
p.S206S
c.618G>A
1 paper
NM_004822.3
p.T222M
c.665C>T
1 paper
NM_004822.3
p.S228W
c.683C>G
1 paper
NM_004822.3
p.S228L
c.683C>T
1 paper
NM_004822.3
p.Q199delFs
c.596_597delAG
1 paper
NM_004822.3
p.I193F
c.577A>T
1 paper
NM_004822.3
p.S178F
c.533C>T
2 papers
NM_004822.3
p.A250T
c.748G>A
1 paper
NM_004822.3
p.A250V
c.749C>T
1 paper
NM_004822.3
p.F174L
c.522C>A
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