Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.H51Q

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.H51Q
c.153T>G
Surrounding Variants
1 paper
NM_001202.6
p.H51Q
c.153T>A
1 paper
NM_001202.6
p.S50insFs
c.149_150insT
1 paper
NM_001202.6
p.S50insFs
c.149_150insAG
1 paper
NM_001202.6
p.Q49H
c.147G>T
1 paper
NM_001202.6
p.L54R
c.161T>G
1 paper
NM_001202.6
p.Q49*
c.145C>T
1 paper
NM_001202.6
p.G48E
c.143G>A
1 paper
NM_001202.6
p.R55W
c.163C>T
1 paper
NM_001202.6
p.G48R
c.142G>C
1 paper
NM_001202.6
p.G48R
c.142G>A
1 paper
NM_001202.6
p.S47*
c.140C>G
1 paper
NM_001202.6
p.D56E
c.168C>G
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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."