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

3 papers

NM_001130144.3

p.G739delFs

c.2216delC

Surrounding Variants

1 paper

NM_001130144.3

p.G739insFs

c.2216_2217insG

1 paper

NM_001130144.3

p.G739fs

c.2215_2216fs

1 paper

NM_001130144.3

p.G740fs

c.2218_2219fs

1 paper

NM_001130144.3

p.G739delFs

c.2216_2217delGC

7 papers

NM_001130144.3

p.G739fs

c.2215_2216fs

1 paper

NM_001130144.3

p.A741V

c.2222C>T

3 papers

NM_001130144.3

p.A741G

c.2222C>G

1 paper

NM_001130144.3

p.A741delFs

c.2223delG

1 paper

NM_001130144.3

p.I728delFs

c.2184delG

1 paper

NM_001130144.3

p.K726T

c.2177A>C

2 papers

NM_001130144.3

p.P714R

c.2141C>G

1 paper

NM_001130144.3

p.D705H

c.2113G>C