Varaico: Literature-Extracted Genetic Variants

Gene:NTN1
Variant:p.K484K

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
2 papers
NM_004822.3
p.K484K
c.1452G>A
Surrounding Variants
1 paper
NM_004822.3
p.K489_K492delFs
c.1466_1476del11
1 paper
NM_004822.3
p.K489R
c.1466A>G
1 paper
NM_004822.3
p.S479F
c.1436C>T
1 paper
NM_004822.3
p.Y495N
c.1483T>A
1 paper
NM_004822.3
p.Y495F
c.1484A>T
1 paper
NM_004822.3
p.D471Splc
c.1412-5T>A
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