Varaico: Literature-Extracted Genetic Variants

LTBP3

169 papers

RefSeq Summary

The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires rem...

Pfam Domains

hEGFaa 117–135UCSCHuman growth factor-like EGF

TBaa 288–329UCSCTB domain

EGF_CAaa 355–394UCSCCalcium-binding EGF domain

TBaa 413–455UCSCTB domain

cEGFaa 596–619UCSCComplement Clr-like EGF-like

EGF_CAaa 660–701UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130144.3

p.L464F

c.1390C>T

Surrounding Variants

1 paper

NM_001130144.3

p.S466Y

c.1397C>A

1 paper

NM_001130144.3

p.Q468*

c.1402C>T

1 paper

NM_001130144.3

p.I454M

c.1362C>G

2 papers

NM_001130144.3

p.A449Splc

c.1346-1G>A

1 paper

NM_001130144.3

p.G486R

c.1456G>C

1 paper

NM_001130144.3

p.G486R

c.1456G>A

1 paper

NM_001130144.3

p.G486_P487insFs

c.1458_1459ins10

1 paper

NM_001130144.3

p.P501L

c.1502C>T

1 paper

NM_001130144.3

p.E504K

c.1510G>A

6 papers

NM_001130144.3

p.G511Splc

c.1531+1G>T

2 papers

NM_001130144.3

p.G511Splc

c.1531+1G>A

1 paper

NM_001130144.3

p.Q441_R442ins5

c.1321_1325ins15