Varaico: Literature-Extracted Genetic Variants

Gene:NETO1
Variant:p.P499L

NETO1

54 papers

RefSeq Summary

This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spati...

Pfam Domains

CUBaa 41–152UCSCCUB domain
CUBaa 172–284UCSCCUB domain
Ldl_recept_aaa 290–326UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

neuropilin and tolloid like 1

HGNC Alias Symbols

BTCL1; BCTL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138966.5
p.P499L
c.1496C>T
Surrounding Variants
1 paper
NM_138966.5
p.E496K
c.1486G>A
1 paper
NM_138966.5
p.A487G
c.1460C>G
1 paper
NM_138966.5
p.A511A
c.1533C>A
1 paper
NM_138966.5
p.R444C
c.1330C>T
1 paper
NM_138966.5
p.H418R
c.1253A>G
1 paper
NM_138966.5
p.A411E
c.1232C>A
2 papers
NM_138966.5
p.G402R
c.1204G>C
2 papers
NM_138966.5
p.G402R
c.1204G>A
1 paper
NM_138966.5
p.I352M
c.1056C>G
1 paper
NM_138966.5
p.R514Q
c.1541G>A
1 paper
NM_138966.5
p.F515C
c.1544T>G
1 paper
NM_138966.5
p.S522R
c.1564A>C
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