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

10 papers

NM_000428.3

p.P989R

c.2966C>G

Surrounding Variants

1 paper

NM_000428.3

p.G978S

c.2932G>A

1 paper

NM_000428.3

p.R1002R

c.3006G>A

1 paper

NM_000428.3

p.R975C

c.2923C>T

1 paper

NM_000428.3

p.D1010N

c.3028G>A

3 papers

NM_000428.3

p.D1010N

c.3028G>A

2 papers

NM_000428.3

p.E1013G

c.3038A>G

1 paper

NM_000428.3

p.S1031S

c.3093C>T

1 paper

NM_000428.3

p.C1036F

c.3107G>T

1 paper

NM_000428.3

p.Y1040*

c.3120T>G

1 paper

NM_000428.3

p.Y1040*

c.3120T>A

1 paper

NM_000428.3

p.S1044*

c.3131C>G

1 paper

NM_000428.3

p.S1044*

c.3131C>A