Varaico: Literature-Extracted Genetic Variants

Gene:NTN1
Variant:p.A250T

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.A250T
c.748G>A
Surrounding Variants
1 paper
NM_004822.3
p.A250V
c.749C>T
1 paper
NM_004822.3
p.E262delFs
c.785delA
1 paper
NM_004822.3
p.E266V
c.797A>T
1 paper
NM_004822.3
p.A268T
c.802G>A
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.T222M
c.665C>T
1 paper
NM_004822.3
p.L279L
c.835C>T
1 paper
NM_004822.3
p.Q280_V281insT
c.838_842ins3
1 paper
NM_004822.3
p.L217F
c.649C>T
1 paper
NM_004822.3
p.C285S
c.853T>A
1 paper
NM_004822.3
p.C285S
c.854G>C
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