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.P825L

c.2474C>T

Surrounding Variants

1 paper

NM_003243.5

p.S828W

c.2483C>G

1 paper

NM_003243.5

p.V821L

c.2461G>C

1 paper

NM_003243.5

p.N830H

c.2488A>C

1 paper

NM_003243.5

p.A834_H835insFs

c.2502_2503insA

1 paper

NM_003243.5

p.I837V

c.2509A>G

1 paper

NM_003243.5

p.T840M

c.2519C>T

1 paper

NM_003243.5

p.S848N

c.2543G>A