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

1–12 of 265 variants

9 papers

NM_001130144.3

p.A438V

c.1313C>T

9 papers

NM_001130144.3

p.Y774*

c.2322C>G

8 papers

NM_001130144.3

p.Y774*

c.2322C>A

7 papers

NM_001130144.3

p.P45fs

c.133_134fs

7 papers

NM_001130144.3

p.Y691fs

c.2071_2072fs

7 papers

NM_001130144.3

p.G739fs

c.2215_2216fs

6 papers

NM_001130144.3

p.G511Splc

c.1531+1G>T

6 papers

NM_001130144.3

p.C620fs

c.1858_1859fs

5 papers

NM_001130144.3

p.G44delFs

c.132delC

5 papers

NM_001130144.3

p.Q141*

c.421C>T

5 papers

NM_001130144.3

p.E750*

c.2248G>T

5 papers

NM_001130144.3

p.V786fs

c.2356_2357fs