Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.S42S

BMP2

396 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 42–267UCSCTGF-beta propeptide
TGF_betaaa 295–395UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

bone morphogenetic protein 2

HGNC Previous Symbol

BMP2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001200.4
p.S42S
c.126A>C
Surrounding Variants
1 paper
NM_001200.4
p.Q44_P45delFs
c.131_134del4
1 paper
NM_001200.4
p.S42T
c.124T>A
1 paper
NM_001200.4
p.P41A
c.121C>G
1 paper
NM_001200.4
p.S38*
c.113C>A
1 paper
NM_001200.4
p.S38_S42delFs
c.112_124del13
2 papers
NM_001200.4
p.E48*
c.142G>T
37 papers
NM_001200.4
p.S37A
c.109T>G
1 paper
NM_001200.4
p.S37delFs
c.110delC
1 paper
NM_001200.4
p.A36T
c.106G>A
2 papers
NM_001200.4
p.A36insFs
c.106dupG
1 paper
NM_001200.4
p.L50L
c.150G>T
1 paper
NM_001200.4
p.S51T
c.152G>C
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