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

2 papers

NM_012342.3

p.V208I

c.622G>A

Surrounding Variants

1 paper

NM_012342.3

p.G206E

c.617G>A

2 papers

NM_012342.3

p.H201R

c.602A>G

1 paper

NM_012342.3

p.R193C

c.577C>T

1 paper

NM_012342.3

p.M190I

c.570G>A

1 paper

NM_012342.3

p.M190I

c.570G>C

1 paper

NM_012342.3

p.M190I

c.570G>T

1 paper

NM_012342.3

p.C229R

c.685T>C

1 paper

NM_012342.3

p.D185Y

c.553G>T

1 paper

NM_012342.3

p.Q184P

c.551A>C

1 paper

NM_012342.3

p.D236A

c.707A>C

1 paper

NM_012342.3

p.S238T

c.713G>C

1 paper

NM_012342.3

p.N239N

c.717C>T