Varaico: Literature-Extracted Genetic Variants

LTBP1

193 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated ...

Pfam Domains

hEGFaa 81–99UCSCHuman growth factor-like EGF

TBaa 240–284UCSCTB domain

EGF_CAaa 300–339UCSCCalcium-binding EGF domain

TBaa 361–403UCSCTB domain

EGF_CAaa 547–587UCSCCalcium-binding EGF domain

TBaa 566–610UCSCTB domain

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 1

HGNC Alias Names

TGF-beta1-BP-1; Transforming growth factor beta-1-binding protein 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 295 variants

4 papers

NM_206943.4

p.R1330Q

c.3989G>A

4 papers

NM_206943.4

p.V1378A

c.4133T>C

3 papers

NM_206943.4

p.G171R

c.511G>A

3 papers

NM_206943.4

p.E246K

c.736G>A

3 papers

NM_206943.4

p.V308A

c.923T>C

2 papers

NM_206943.4

p.P126P

c.378G>A

2 papers

NM_206943.4

p.E146K

c.436G>A

2 papers

NM_206943.4

p.L163P

c.488T>C

2 papers

NM_206943.4

p.G171R

c.511G>C

2 papers

NM_206943.4

p.Q288Splc

c.864-1G>T

2 papers

NM_206943.4

p.S294S

c.882C>T

2 papers

NM_206943.4

p.Q448*

c.1342C>T