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.Q448P

c.1343A>C

Surrounding Variants

2 papers

NM_206943.4

p.Q448*

c.1342C>T

1 paper

NM_206943.4

p.P449L

c.1346C>T

1 paper

NM_206943.4

p.P449P

c.1347A>G

1 paper

NM_206943.4

p.Q447_Q448insA

c.1339_1343ins3

1 paper

NM_206943.4

p.G454_H459del6

c.1360_1376del18

1 paper

NM_206943.4

p.T455M

c.1364C>T

2 papers

NM_206943.4

p.H456N

c.1366C>A

1 paper

NM_206943.4

p.G410C

c.1228G>T

1 paper

NM_206943.4

p.H404Y

c.1210C>T

1 paper

NM_206943.4

p.V401Splc

c.1202-1G>A

2 papers

NM_206943.4

p.V476Splc

c.1427-4G>T

1 paper

NM_206943.4

p.P491L

c.1472C>T