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.S236P

c.706T>C

Surrounding Variants

1 paper

NM_004612.4

p.S236F

c.707C>T

1 paper

NM_004612.4

p.S236del1

c.706_707delTCT

1 paper

NM_004612.4

p.S235F

c.704C>T

2 papers

NM_001130916.3

p.R160G

c.478A>G

NM_004612.4

p.R237G

c.709A>G

1 paper

NM_004612.4

p.R237*

c.709A>T

6 papers

NM_004612.4

p.F234L

c.702C>A

7 papers

NM_004612.4

p.F234L

c.702C>G

1 paper

NM_004612.4

p.S235delFs

c.703delT

1 paper

NM_004612.4

p.R237K

c.710G>A

2 papers

NM_004612.4

p.S235_S236del1

c.705_707delCTC

6 papers

NM_004612.4

p.F234L

c.700T>C

1 paper

NM_004612.4

p.E238_R240delins

c.713_718delinsCTT