Varaico: Literature-Extracted Genetic Variants

Gene:NBL1
Variant:p.M91K

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.M91K
c.272T>A
Surrounding Variants
1 paper
NM_005380.8
p.S90A
c.268T>G
1 paper
NM_005380.8
p.E93D
c.279G>C
1 paper
NM_005380.8
p.E93D
c.279G>T
1 paper
NM_005380.8
p.S78A
c.232T>G
1 paper
NM_005380.8
p.P73S
c.217C>T
1 paper
NM_005380.8
p.V68I
c.202G>A
1 paper
NM_005380.8
p.V68L
c.202G>C
1 paper
NM_005380.8
p.V68F
c.202G>T
1 paper
NM_005380.8
p.S67N
c.200G>A
1 paper
NM_005380.8
p.Y66delFs
c.196_197delTA
1 paper
NM_005380.8
p.S65T
c.194G>C
1 paper
NM_005380.8
p.F64L
c.192C>A
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