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

1–12 of 194 variants

12 papers

NM_003243.5

p.S15F

c.44C>T

5 papers

NM_003243.5

p.H155R

c.464A>G

5 papers

NM_003243.5

p.E459G

c.1376A>G

5 papers

NM_003243.5

p.G765R

c.2293G>C

5 papers

NM_003243.5

p.P825L

c.2474C>T

4 papers

NM_003243.5

p.T19A

c.55A>G

4 papers

NM_003243.5

p.P402P

c.1206G>A

4 papers

NM_003243.5

p.P777S

c.2329C>T

4 papers

NM_003243.5

p.P777S

c.2329C>T

4 papers

NM_003243.5

p.I790F

c.2368A>T

3 papers

NM_003243.5

p.A72A

c.216A>G

3 papers

NM_003243.5

p.L128_V129Splc

c.385-4C>G