Varaico: Literature-Extracted Genetic Variants

Gene:NTN1
Variant:p.C601R

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.C601R
c.1801T>C
Surrounding Variants
1 paper
NM_004822.3
p.C601S
c.1801T>A
1 paper
NM_004822.3
p.C601S
c.1802G>C
1 paper
NM_004822.3
p.C601delFs
c.1801delT
1 paper
NM_004822.3
p.K603K
c.1809G>A
1 paper
NM_004822.3
p.*605fs
c.1813_1814fs
1 paper
NM_004822.3
p.*605W
c.1814A>G
1 paper
NM_004822.3
p.E596_K597del2
c.1786_1790del6
2 papers
NM_004822.3
p.R590L
c.1769G>T
1 paper
NM_004822.3
p.A572D
c.1715C>A
1 paper
NM_004822.3
p.G559A
c.1676G>C
1 paper
NM_004822.3
p.P551P
c.1653C>T
1 paper
NM_004822.3
p.P551fs
c.1651_1652fs
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