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

1 paper

NM_000428.3

p.G1516fs

c.4546_4547fs

Surrounding Variants

1 paper

NM_000428.3

p.P1515_G1516insFs

c.4545_4546insC

1 paper

NM_000428.3

p.P1515_H1518delFs

c.4545_4552del8

1 paper

NM_000428.3

p.A1521V

c.4562C>T

1 paper

NM_000428.3

p.K1525del1

c.4573_4575delCTT

6 papers

NM_000428.3

p.V1506M

c.4516G>A

1 paper

NM_000428.3

p.D1528Splc

c.4582+2T>C

1 paper

NM_000428.3

p.D1528Splc

c.4582+9A>G

1 paper

NM_000428.3

p.G1493R

c.4477G>C

1 paper

NM_000428.3

p.G1493R

c.4477G>A

1 paper

NM_000428.3

p.D1485Splc

c.4454-2A>G

1 paper

NM_000428.3

p.Q1533*

c.4597C>T

2 papers

NM_000428.3

p.N1539fs

c.4615_4616fs