Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.L46P

NOG

231 papers

RefSeq Summary

The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BM...

Pfam Domains

Nogginaa 12–232UCSCNoggin

Gene Aliases

HGNC Name

noggin

HGNC Previous Symbols

SYNS1; SYM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005450.6
p.L46P
c.137T>C
Surrounding Variants
1 paper
NM_005450.6
p.L46insFs
c.137_138ins8
2 papers
NM_005450.6
p.L46F
c.136C>T
13 papers
NM_005450.6
p.E48K
c.142G>A
1 paper
NM_005450.6
p.V44insFs
c.131_132insGG
1 paper
NM_005450.6
p.V44M
c.130G>A
4 papers
NM_005450.6
p.V44fs
c.130_131fs
1 paper
NM_005450.6
p.V44fs
c.130_131fs
1 paper
NM_005450.6
p.V44insFs
c.130dupG
3 papers
NM_005450.6
p.L43_V44insFs
c.129_130dupGG
1 paper
NM_005450.6
p.L43V
c.127C>G
1 paper
NM_005450.6
p.P50A
c.148C>G
2 papers
NM_005450.6
p.P50S
c.148C>T
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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."