Varaico: Literature-Extracted Genetic Variants

TGFBR3

193 papers

RefSeq Summary

This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor super...

Pfam Domains

TGFBR3_Naa 44–213UCSCTGFBR3-like, N-terminal domain

TGFBR3_Naa 214–364UCSCTGFBR3-like, N-terminal domain

ZP-Naa 456–538UCSCZP-N domain

Zona_pellucidaaa 587–724UCSCZP-C domain

Gene Aliases

HGNC Name

transforming growth factor beta receptor 3

HGNC Alias Symbols

betaglycan; BGCAN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_003243.5

p.H155R

c.464A>G

Surrounding Variants

1 paper

NM_003243.5

p.G156R

c.466G>A

1 paper

NM_003243.5

p.T148A

c.442A>G

1 paper

NM_003243.5

p.A164V

c.491C>T

1 paper

NM_003243.5

p.F142L

c.426C>G

1 paper

NM_003243.5

p.F142L

c.426C>A

1 paper

NM_003243.5

p.F142L

c.424T>C

3 papers

NM_003243.5

p.A170V

c.509C>T

2 papers

NM_003243.5

p.V171A

c.512T>C

2 papers

NM_003243.5

p.S173S

c.519A>G

1 paper

NM_003243.5

p.Q136R

c.407A>G

2 papers

NM_003243.5

p.T175T

c.525C>T

1 paper

NM_003243.5

p.T175T

c.525C>G