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

4 papers

NM_003243.5

p.T19A

c.55A>G

Surrounding Variants

12 papers

NM_003243.5

p.S15F

c.44C>T

1 paper

NM_003243.5

p.S15P

c.43T>C

1 paper

NM_003243.5

p.S14N

c.41G>A

1 paper

NM_003243.5

p.F10S

c.29T>C

1 paper

NM_003243.5

p.I9ins1

c.25_26insCCC

1 paper

NM_003243.5

p.M1I

c.3G>T

1 paper

NM_003243.5

p.M1R

c.2T>G

1 paper

NM_003243.5

p.G21Splc

c.61+7543C>T