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

30 papers

NM_004612.4

p.R487Q

c.1460G>A

Surrounding Variants

9 papers

NM_004612.4

p.R487P

c.1460G>C

1 paper

NM_004612.4

p.R487L

c.1460G>T

1 paper

NM_004612.4

p.R487R

c.1459C>A

2 papers

NM_004612.4

p.R487G

c.1459C>G

25 papers

NM_004612.4

p.R487W

c.1459C>T

1 paper

NM_004612.4

p.L486_R487delins

c.1458_1459delinsAG

4 papers

NM_004612.4

p.L486S

c.1457T>C

1 paper

NM_004612.4

p.K489E

c.1465A>G

2 papers

NM_004612.4

p.K490E

c.1468A>G

1 paper

NM_004612.4

p.T484insFs

c.1450_1451insG

1 paper

NM_004612.4

p.L483F

c.1447C>T

2 papers

NM_004612.4

p.R482K

c.1445G>A