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.C48Y

c.143G>A

Surrounding Variants

1 paper

NM_004612.4

p.C48F

c.143G>T

1 paper

NM_004612.4

p.C48*

c.144T>A

1 paper

NM_004612.4

p.V49L

c.145G>T

1 paper

NM_004612.4

p.T50delFs

c.149_150delCA

3 papers

NM_004612.4

p.D51_T59del9

c.151_176del27

1 paper

NM_004612.4

p.D51_T62del12

c.151_185del36

3 papers

NM_004612.4

p.T50_D51insGGC

c.148_152ins9

1 paper

NM_004612.4

p.T50_D51ins6

c.148_152ins18

1 paper

NM_004612.4

p.T50A

c.148A>G

1 paper

NM_004612.4

p.T50I

c.149C>T

1 paper

NM_004612.4

p.F46_T47insAGA

c.136_140ins9

1 paper

NM_004612.4

p.N45K

c.135T>A