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

1–12 of 50 variants

3 papers

NM_012342.3

p.M250V

c.748A>G

2 papers

NM_012342.3

p.T76T

c.228G>A

2 papers

NM_012342.3

p.M103delFs

c.307_308delAT

2 papers

NM_012342.3

p.G108A

c.323G>C

2 papers

NM_012342.3

p.R151W

c.451C>T

2 papers

NM_012342.3

p.H201R

c.602A>G

2 papers

NM_012342.3

p.V208I

c.622G>A

1 paper

NM_012342.3

p.T24I

c.71C>T

1 paper

NM_012342.3

p.G26Splc

c.77-4T>C

1 paper

NM_012342.3

p.C30R

c.88T>C

1 paper

NM_012342.3

p.A34D

c.101C>A

1 paper

NM_012342.3

p.A34_E47delFs

c.102_139del38