Varaico: Literature-Extracted Genetic Variants

Gene:NETO1
Variant:p.R268H

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
2 papers
NM_138966.5
p.R268H
c.803G>A
Surrounding Variants
1 paper
NM_138966.5
p.R268C
c.802C>T
1 paper
NM_138966.5
p.S275R
c.825T>G
1 paper
NM_138966.5
p.R276Q
c.827G>A
1 paper
NM_138966.5
p.S278N
c.833G>A
1 paper
NM_138966.5
p.R279Q
c.836G>A
1 paper
NM_138966.5
p.S242Y
c.725C>A
1 paper
NM_138966.5
p.A235S
c.703G>T
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