Varaico: Literature-Extracted Genetic Variants

LTBP2

310 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. Thi...

Pfam Domains

TBaa 561–599UCSCTB domain

EGF_CAaa 622–661UCSCCalcium-binding EGF domain

TBaa 681–724UCSCTB domain

EGF_CAaa 844–885UCSCCalcium-binding EGF domain

EGF_CAaa 887–928UCSCCalcium-binding EGF domain

EGF_CAaa 930–968UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 2

HGNC Previous Symbol

C14orf141

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_000428.3

p.W807*

c.2420G>A

Surrounding Variants

6 papers

NM_000428.3

p.W807*

c.2421G>A

1 paper

NM_000428.3

p.G810Splc

c.2428+2T>G

3 papers

NM_000428.3

p.G810Splc

c.2428+5G>C

1 paper

NM_000428.3

p.T802T

c.2406T>C

1 paper

NM_000428.3

p.V801fs

c.2401_2402fs

1 paper

NM_000428.3

p.T799T

c.2397C>A

1 paper

NM_000428.3

p.T799N

c.2396C>A

1 paper

NM_000428.3

p.Q796_V797Splc

c.2389-44T>G

1 paper

NM_000428.3

p.A812T

c.2434G>A

1 paper

NM_000428.3

p.Q820insFs

c.2458_2459insG

1 paper

NM_000428.3

p.V838M

c.2512G>A

1 paper

NM_000428.3

p.S841R

c.2521A>C