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

1 paper

NM_206943.4

p.G70V

c.209G>T

Surrounding Variants

1 paper

NM_206943.4

p.A68P

c.202G>C

1 paper

NM_206943.4

p.A60G

c.179C>G

1 paper

NM_206943.4

p.F54L

c.162C>G

1 paper

NM_206943.4

p.R86G

c.256C>G

1 paper

NM_206943.4

p.R52Q

c.155G>A

1 paper

NM_206943.4

p.G92D

c.275G>A

1 paper

NM_206943.4

p.Q96*

c.286C>T

1 paper

NM_206943.4

p.G97W

c.289G>T

1 paper

NM_206943.4

p.P106ins0

c.316_318dupCCG

1 paper

NM_206943.4

p.A40T

c.118G>A

1 paper

NM_206943.4

p.P34L

c.101C>T

1 paper

NM_206943.4

p.E107G

c.320A>G