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.H88delFs

c.264delC

Surrounding Variants

1 paper

NM_012342.3

p.T92I

c.275C>T

1 paper

NM_012342.3

p.T77K

c.230C>A

2 papers

NM_012342.3

p.T76T

c.228G>A

1 paper

NM_012342.3

p.H100Q

c.300T>A

2 papers

NM_012342.3

p.M103delFs

c.307_308delAT

1 paper

NM_012342.3

p.M103fs

c.307_308fs

1 paper

NM_012342.3

p.M103fs

c.307_308fs

1 paper

NM_012342.3

p.C104C

c.312C>T

1 paper

NM_012342.3

p.N105N

c.315T>C

2 papers

NM_012342.3

p.G108A

c.323G>C

1 paper

NM_012342.3

p.L65V

c.193C>G

1 paper

NM_012342.3

p.P58R

c.173C>G