Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.C14delFs

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
1 paper
NM_001202.6
p.C14delFs
c.40_41delCA
Surrounding Variants
1 paper
NM_001202.6
p.C14F
c.41G>T
1 paper
NM_001202.6
p.Q15fs
c.43_44fs
1 paper
NM_001202.6
p.Q15delFs
c.43delG
1 paper
NM_001202.6
p.L13L
c.39A>G
1 paper
NM_001202.6
p.V16V
c.48C>T
1 paper
NM_001202.6
p.V10A
c.29T>C
1 paper
NM_001202.6
p.G19V
c.56G>T
1 paper
NM_001202.6
p.G19E
c.56G>A
1 paper
NM_001202.6
p.M9insFs
c.26dupT
1 paper
NM_001202.6
p.M9I
c.27G>A
1 paper
NM_001202.6
p.G20R
c.58G>C
1 paper
NM_001202.6
p.G20S
c.58G>A
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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."