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

2 papers

NM_000428.3

p.N1539fs

c.4615_4616fs

Surrounding Variants

2 papers

NM_000428.3

p.N1539_G1540delFs

c.4617_4618delCA

1 paper

NM_000428.3

p.E1541K

c.4621G>A

1 paper

NM_000428.3

p.Q1533*

c.4597C>T

1 paper

NM_000428.3

p.P1556L

c.4667C>T

1 paper

NM_000428.3

p.P1556insFs

c.4667dupC

1 paper

NM_000428.3

p.P1556fs

c.4666_4667fs

1 paper

NM_000428.3

p.Q1564K

c.4690C>A

2 papers

NM_000428.3

p.M1567V

c.4699A>G

2 papers

NM_000428.3

p.E1574Splc

c.4721-1G>C

4 papers

NM_000428.3

p.W1587*

c.4760G>A

4 papers

NM_000428.3

p.W1587*

c.4761G>A

3 papers

NM_000428.3

p.V1590A

c.4769T>C