Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.L26L

BMP4

511 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 44–275UCSCTGF-beta propeptide
TGF_betaaa 307–407UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 4

HGNC Previous Symbol

BMP2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001202.6
p.L26L
c.76T>C
Surrounding Variants
2 papers
NM_001202.6
p.S25T
c.74G>C
1 paper
NM_001202.6
p.I27T
c.80T>C
1 paper
NM_001202.6
p.A24delFs
c.71delG
1 paper
NM_001202.6
p.A24insFs
c.71_72insG
1 paper
NM_001202.6
p.A24delFs
c.70delC
1 paper
NM_001202.6
p.P28_E29insFs
c.84_85insG
1 paper
NM_001202.6
p.H23Y
c.67C>T
1 paper
NM_001202.6
p.E29A
c.86A>C
2 papers
NM_001202.6
p.T30M
c.89C>T
1 paper
NM_001202.6
p.A21V
c.62C>T
1 paper
NM_001202.6
p.A24_T30delFs
c.70_89del20
1 paper
NM_001202.6
p.G20insFs
c.58_59ins7
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