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.V476Splc

c.1427-4G>T

Surrounding Variants

1 paper

NM_206943.4

p.P491L

c.1472C>T

1 paper

NM_206943.4

p.V495I

c.1483G>A

1 paper

NM_206943.4

p.D504N

c.1510G>A

1 paper

NM_206943.4

p.G508C

c.1522G>T

1 paper

NM_206943.4

p.Q509K

c.1525C>A

1 paper

NM_206943.4

p.K510M

c.1529A>T

1 paper

NM_206943.4

p.Q529R

c.1586A>G

1 paper

NM_206943.4

p.S536_Y538del0

c.1606_1614del9

1 paper

NM_206943.4

p.T537S

c.1609A>T

1 paper

NM_206943.4

p.H540Q

c.1620C>A

1 paper

NM_206943.4

p.H540Q

c.1620C>G

1 paper

NM_206943.4

p.Q542H

c.1626G>C