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.C783insFs

c.2348dupG

Surrounding Variants

1 paper

NM_001130144.3

p.C783fs

c.2347_2348fs

1 paper

NM_001130144.3

p.G780D

c.2339G>A

1 paper

NM_001130144.3

p.D779N

c.2335G>A

9 papers

NM_001130144.3

p.Y774*

c.2322C>G

8 papers

NM_001130144.3

p.Y774*

c.2322C>A

1 paper

NM_001130144.3

p.W758C

c.2274G>T

1 paper

NM_001130144.3

p.W758insFs

c.2272_2273insG

1 paper

NM_001130144.3

p.G757D

c.2270G>A

1 paper

NM_001130144.3

p.S755_P756ins5

c.2265_2266ins15

1 paper

NM_001130144.3

p.S755ins5

c.2264_2265ins15

5 papers

NM_001130144.3

p.E750*

c.2248G>T

2 papers

NM_001130144.3

p.E750K

c.2248G>A