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.P432A

c.1294C>G

Surrounding Variants

12 papers

NM_000428.3

p.P432L

c.1295C>T

1 paper

NM_000428.3

p.Q433*

c.1297C>T

3 papers

NM_000428.3

p.L429L

c.1287G>A

1 paper

NM_000428.3

p.F426insFs

c.1277_1278ins4

1 paper

NM_000428.3

p.F426_C427insFs

c.1278_1279ins4

1 paper

NM_000428.3

p.E437E

c.1311G>A

1 paper

NM_000428.3

p.S443C

c.1328C>G

1 paper

NM_000428.3

p.A420T

c.1258G>A

2 papers

NM_000428.3

p.R444H

c.1331G>A

2 papers

NM_000428.3

p.E415_P419delFs

c.1243_1256del14

1 paper

NM_000428.3

p.C418G

c.1252T>G

1 paper

NM_000428.3

p.W417*

c.1251G>A