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

3 papers

NM_003243.5

p.A72A

c.216A>G

Surrounding Variants

1 paper

NM_003243.5

p.A72V

c.215C>T

1 paper

NM_003243.5

p.L69insFs

c.205_206ins4

1 paper

NM_003243.5

p.E63D

c.189G>T

1 paper

NM_003243.5

p.E63D

c.189G>C

1 paper

NM_003243.5

p.Q62insFs

c.185_186insA

1 paper

NM_003243.5

p.P61S

c.181C>T

1 paper

NM_003243.5

p.S54N

c.161G>A

1 paper

NM_003243.5

p.A53T

c.157G>A

1 paper

NM_003243.5

p.C52Y

c.155G>A

1 paper

NM_003243.5

p.V48I

c.142G>A

1 paper

NM_003243.5

p.T47S

c.140C>G

1 paper

NM_003243.5

p.M43L

c.127A>T