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

2 papers

NM_206943.4

p.P126P

c.378G>A

Surrounding Variants

1 paper

NM_206943.4

p.P130Q

c.389C>A

1 paper

NM_206943.4

p.P122T

c.364C>A

1 paper

NM_206943.4

p.K133R

c.398A>G

1 paper

NM_206943.4

p.H119Q

c.357C>A

1 paper

NM_206943.4

p.H119Q

c.357C>G

1 paper

NM_206943.4

p.G115D

c.344G>A

1 paper

NM_206943.4

p.K142Q

c.424A>C

1 paper

NM_206943.4

p.P111H

c.332C>A

1 paper

NM_206943.4

p.R110C

c.328C>T

1 paper

NM_206943.4

p.E107G

c.320A>G

2 papers

NM_206943.4

p.E146K

c.436G>A

1 paper

NM_206943.4

p.T147I

c.440C>T