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.C1372R

c.4114T>C

Surrounding Variants

1 paper

NM_206943.4

p.Q1370P

c.4109A>C

1 paper

NM_206943.4

p.V1367V

c.4101C>A

1 paper

NM_001166264.2

p.V999A

c.2996T>C

1 paper

NM_206943.4

p.N1366S

c.4097A>G

4 papers

NM_206943.4

p.V1378A

c.4133T>C

NM_001166264.2

p.V1010A

c.3029T>C

NM_000627.4

p.V1052A

c.3155T>C

NM_001166265.2

p.V999A

c.2996T>C

NM_001166266.2

p.V957A

c.2870T>C

1 paper

NM_206943.4

p.N1383K

c.4149C>A

1 paper

NM_206943.4

p.C1384*

c.4152C>A

1 paper

NM_206943.4

p.F1387insFs

c.4160_4161insA

1 paper

NM_206943.4

p.F1387L

c.4161C>A

1 paper

NM_206943.4

p.A1356V

c.4067C>T

1 paper

NM_206943.4

p.A1356T

c.4066G>A

1 paper

NM_206943.4

p.N1354S

c.4061A>G