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

26 papers

NM_000428.3

p.R299*

c.895C>T

Surrounding Variants

1 paper

NM_000428.3

p.T297T

c.891T>G

1 paper

NM_000428.3

p.R296C

c.886C>T

1 paper

NM_000428.3

p.P302Q

c.905C>A

1 paper

NM_000428.3

p.L294F

c.882G>T

1 paper

NM_000428.3

p.L294F

c.882G>C

3 papers

NM_000428.3

p.Q290insFs

c.868dupC

1 paper

NM_000428.3

p.Q309*

c.925C>T

1 paper

NM_000428.3

p.S283I

c.848G>T

1 paper

NM_000428.3

p.P317S

c.949C>T

1 paper

NM_000428.3

p.P317P

c.951G>A

5 papers

NM_000428.3

p.P319Q

c.956C>A

1 paper

NM_000428.3

p.G320C

c.958G>T