Varaico: Literature-Extracted Genetic Variants

Gene:NBL1
Variant:p.E175D

NBL1

105 papers

RefSeq Summary

This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif foun...

Pfam Domains

DANaa 57–157UCSCDAN domain

Gene Aliases

HGNC Name

NBL1, DAN family BMP antagonist

HGNC Alias Symbols

D1S1733E; NB; DAN; NO3; DAND1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005380.8
p.E175D
c.525G>C
Surrounding Variants
1 paper
NM_005380.8
p.E176A
c.527A>C
1 paper
NM_005380.8
p.E177Q
c.529G>C
1 paper
NM_005380.8
p.A179V
c.536C>T
1 paper
NM_005380.8
p.A171V
c.512C>T
1 paper
NM_005380.8
p.P168A
c.502C>G
1 paper
NM_005380.8
p.E166A
c.497A>C
2 papers
NM_005380.8
p.E166*
c.496G>T
1 paper
NM_005380.8
p.G160_Q161insFs
c.480_481insA
1 paper
NM_005380.8
p.G160_Q161insFs
c.480_481insG
1 paper
NM_005380.8
p.P150_H151insC
c.448_452ins3
1 paper
NM_005380.8
p.H149P
c.446A>C
1 paper
NM_005380.8
p.G143E
c.428G>A
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