Varaico: Literature-Extracted Genetic Variants

BAMBI

48 papers

RefSeq Summary

This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in ma...

Pfam Domains

BAMBIaa 4–111UCSCBMP and activin membrane-bound inhibitor (BAMBI) N-terminal domain

BAMBI_Caa 123–260UCSCBMP and activin membrane-bound inhibitor homolog C-terminus

Gene Aliases

HGNC Name

BMP and activin membrane bound inhibitor

HGNC Alias Symbol

NMA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012342.3

p.D240H

c.718G>C

Surrounding Variants

1 paper

NM_012342.3

p.N239N

c.717C>T

1 paper

NM_012342.3

p.S238T

c.713G>C

1 paper

NM_012342.3

p.D236A

c.707A>C

3 papers

NM_012342.3

p.M250V

c.748A>G

1 paper

NM_012342.3

p.C229R

c.685T>C

1 paper

NM_012342.3

p.G255ins16

c.763_764ins48

1 paper

NM_012342.3

p.H254H

c.762C>T

1 paper

NM_012342.3

p.G255_K256insFs

c.765_766insT

1 paper

NM_012342.3

p.V260I

c.778G>A

1 paper

NM_012342.3

p.V260E

c.779T>A

2 papers

NM_012342.3

p.V208I

c.622G>A

1 paper

NM_012342.3

p.G206E

c.617G>A