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

2 papers

NM_003243.5

p.D457G

c.1370A>G

Surrounding Variants

5 papers

NM_003243.5

p.E459G

c.1376A>G

1 paper

NM_003243.5

p.V463M

c.1387G>A

2 papers

NM_003243.5

p.A451P

c.1351G>C

1 paper

NM_003243.5

p.S447S

c.1341C>T

1 paper

NM_003243.5

p.F435L

c.1305T>G

1 paper

NM_003243.5

p.F435L

c.1305T>A

1 paper

NM_003243.5

p.F435L

c.1303T>C

1 paper

NM_003243.5

p.L434P

c.1301T>C

1 paper

NM_003243.5

p.Q433P

c.1298A>C

1 paper

NM_003243.5

p.D426N

c.1276G>A

3 papers

NM_003243.5

p.R423W

c.1267C>T

1 paper

NM_003243.5

p.D419G

c.1256A>G