Varaico: Literature-Extracted Genetic Variants

Gene:NGFR
Variant:p.A130V

NGFR

230 papers

RefSeq Summary

Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single...

Pfam Domains

TNFR_c6aa 67–107UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 109–146UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 149–188UCSCTNFR/NGFR cysteine-rich region
TNFR_16_TMaa 246–283UCSCTumor necrosis factor receptor member 16 trans-membrane domain
Deathaa 344–421UCSCDeath domain

Gene Aliases

HGNC Name

nerve growth factor receptor

HGNC Alias Symbols

TNFRSF16; CD271; p75NTR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002507.4
p.A130V
c.389C>T
Surrounding Variants
1 paper
NM_002507.4
p.A130A
c.390G>A
1 paper
NM_002507.4
p.A130S
c.388G>T
2 papers
NM_002507.4
p.S132L
c.395C>T
1 paper
NM_002507.4
p.G133C
c.397G>T
1 paper
NM_002507.4
p.A124A
c.372G>A
3 papers
NM_002507.4
p.C122R
c.364T>C
1 paper
NM_002507.4
p.R121C
c.361C>T
2 papers
NM_002507.4
p.D140N
c.418G>A
1 paper
NM_002507.4
p.D151N
c.451G>A
1 paper
NM_002507.4
p.G152R
c.454G>C
1 paper
NM_002507.4
p.G152D
c.455G>A
1 paper
NM_002507.4
p.R108S
c.322C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."