Varaico: Literature-Extracted Genetic Variants

Gene:NETO1
Variant:p.R207Q

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
3 papers
NM_138966.5
p.R207Q
c.620G>A
Surrounding Variants
1 paper
NM_138966.5
p.G181E
c.542G>A
1 paper
NM_138966.5
p.M176T
c.527T>C
1 paper
NM_138966.5
p.D157Splc
c.470-2067A>G
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