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

Selected Variant

3 papers

NM_206943.4

p.V308A

c.923T>C

Surrounding Variants

1 paper

NM_206943.4

p.V308M

c.922G>A

1 paper

NM_206943.4

p.K310N

c.930G>T

1 paper

NM_206943.4

p.Y313*

c.939C>A

1 paper

NM_206943.4

p.Y313*

c.939C>G

1 paper

NM_206943.4

p.P315S

c.943C>T

1 paper

NM_206943.4

p.V297M

c.889G>A

2 papers

NM_206943.4

p.S294S

c.882C>T

2 papers

NM_206943.4

p.Q288Splc

c.864-1G>T

1 paper

NM_206943.4

p.P342L

c.1025C>T

1 paper

NM_206943.4

p.L345L

c.1033C>T

1 paper

NM_206943.4

p.L345Splc

c.1033+143C>G