Varaico: Literature-Extracted Genetic Variants

Gene:NBL1
Variant:p.I40N

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
1 paper
NM_005380.8
p.I40N
c.119T>A
Surrounding Variants
1 paper
NM_182744.4
p.K73R
c.218A>G
1 paper
NM_005380.8
p.A37D
c.110C>A
1 paper
NM_005380.8
p.A33D
c.98C>A
1 paper
NM_005380.8
p.E50fs
c.148_149fs
1 paper
NM_005380.8
p.E50_A51insFs
c.150_151insC
1 paper
NM_005380.8
p.A51S
c.151G>T
1 paper
NM_005380.8
p.L27P
c.80T>C
1 paper
NM_005380.8
p.M14I
c.42G>A
1 paper
NM_005380.8
p.L11I
c.31C>A
1 paper
NM_005380.8
p.M2I
c.6G>A
1 paper
NM_005380.8
p.M2L
c.4A>C
1 paper
NM_005380.8
p.F64L
c.190T>C
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