Varaico: Literature-Extracted Genetic Variants

Gene:BMP4
Variant:p.P342L

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.P342L
c.1025C>T
Surrounding Variants
1 paper
NM_001202.6
p.P342_F343insG
c.1024_1028ins3
4 papers
NM_001202.6
p.A346V
c.1037C>T
1 paper
NM_001202.6
p.C337*
c.1011C>A
1 paper
NM_001202.6
p.D347A
c.1040A>C
1 paper
NM_001347913.2
p.L286F
c.856C>T
1 paper
NM_001202.6
p.F335Fs
c.1003delinsGAFs
2 papers
NM_001202.6
p.A334V
c.1001C>T
3 papers
NM_001202.6
p.A334D
c.1001C>A
1 paper
NM_001202.6
p.N350S
c.1049A>G
1 paper
NM_001202.6
p.S351*
c.1052C>G
1 paper
NM_001202.6
p.S351*
c.1052C>A
1 paper
NM_001202.6
p.Y332Y
c.996C>T
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