Varaico: Literature-Extracted Genetic Variants

TGFBR1

763 papers

RefSeq Summary

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded...

Pfam Domains

Activin_recpaa 1–44UCSCActivin types I and II receptor domain

Activin_recpaa 33–113UCSCActivin types I and II receptor domain

TGF_beta_GSaa 107–134UCSCTransforming growth factor beta type I GS-motif

Pkinaseaa 136–423UCSCProtein kinase domain

Gene Aliases

HGNC Name

transforming growth factor beta receptor 1

HGNC Previous Symbols

MSSE; ESS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004612.4

p.V299A

c.896T>C

Surrounding Variants

1 paper

NM_004612.4

p.E300_G301ins7

c.898_902ins21

1 paper

NM_004612.4

p.T298A

c.892A>G

1 paper

NM_004612.4

p.G301_L307del7

c.901_920del21

1 paper

NM_004612.4

p.V297V

c.891T>G

1 paper

NM_004612.4

p.V297I

c.889G>A

1 paper

NM_004612.4

p.T296A

c.886A>G

1 paper

NM_004612.4

p.I303V

c.907A>G

1 paper

NM_004612.4

p.Y295N

c.883T>A

1 paper

NM_004612.4

p.R294*

c.880A>T

1 paper

NM_004612.4

p.R294fs

c.880_881fs

1 paper

NM_004612.4

p.L305V

c.913C>G

1 paper

NM_004612.4

p.L305F

c.913C>T