Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.Q267*

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.Q267*
c.799C>T
Surrounding Variants
2 papers
NM_001202.6
p.W265*
c.795G>A
2 papers
NM_001202.6
p.W265*
c.794G>A
2 papers
NM_001202.6
p.N264_W265insFs
c.792_793insC
16 papers
NM_001202.6
p.R269Q
c.806G>A
1 paper
NM_001202.6
p.P270insFs
c.810dupC
2 papers
NM_001202.6
p.G261E
c.782G>A
1 paper
NM_001202.6
p.V273A
c.818T>C
1 paper
NM_001202.6
p.V273V
c.819C>T
1 paper
NM_001202.6
p.Q260insFs
c.778_779insA
1 paper
NM_001202.6
p.T274P
c.820A>C
1 paper
NM_001202.6
p.T274I
c.821C>T
1 paper
NM_001202.6
p.S262_V273del12
c.784_818del36
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