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

1–12 of 428 variants

26 papers

NM_000428.3

p.R299*

c.895C>T

12 papers

NM_000428.3

p.Q111*

c.331C>T

12 papers

NM_000428.3

p.P432L

c.1295C>T

10 papers

NM_000428.3

p.P989R

c.2966C>G

10 papers

NM_000428.3

p.H1816insFs

c.5446dupC

9 papers

NM_000428.3

p.S472delFs

c.1415delG

8 papers

NM_000428.3

p.A138delFs

c.412delC

8 papers

NM_000428.3

p.Y1792delFs

c.5376delG

6 papers

NM_000428.3

p.R548*

c.1642C>T

6 papers

NM_000428.3

p.W807*

c.2421G>A

6 papers

NM_000428.3

p.D1345fs

c.4033_4034fs

6 papers

NM_000428.3

p.V1506M

c.4516G>A