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

1 paper

NM_003243.5

p.F792Y

c.2375T>A

Surrounding Variants

4 papers

NM_003243.5

p.I790F

c.2368A>T

1 paper

NM_003243.5

p.V796V

c.2388G>C

2 papers

NM_001195683.2

p.V786M

c.2356G>A

NM_003243.5

p.V787M

c.2359G>A

1 paper

NM_003243.5

p.W806*

c.2417G>A

1 paper

NM_003243.5

p.W806*

c.2418G>A

4 papers

NM_003243.5

p.P777S

c.2329C>T

1 paper

NM_003243.5

p.H811P

c.2432A>C

4 papers

NM_003243.5

p.P777S

c.2329C>T

2 papers

NM_003243.5

p.P776S

c.2326C>T

5 papers

NM_003243.5

p.G765R

c.2293G>C

NM_001195683.2

p.G764R

c.2290G>C