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.C1269Y

c.3806G>A

Surrounding Variants

2 papers

NM_206943.4

p.R1268H

c.3803G>A

1 paper

NM_206943.4

p.S1266F

c.3797C>T

1 paper

NM_206943.4

p.N1262S

c.3785A>G

1 paper

NM_206943.4

p.D1280N

c.3838G>A

2 papers

NM_206943.4

p.G1258W

c.3772G>T

1 paper

NM_206943.4

p.H1257D

c.3769C>G

1 paper

NM_206943.4

p.D1255N

c.3763G>A

1 paper

NM_206943.4

p.C1302insFs

c.3904_3905insT

1 paper

NM_206943.4

p.C1313W

c.3939T>G

1 paper

NM_206943.4

p.Y1320H

c.3958T>C

1 paper

NM_206943.4

p.M1323K

c.3968T>A

1 paper

NM_206943.4

p.R1330W

c.3988C>T