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.G1317S

c.3949G>A

Surrounding Variants

1 paper

NM_000428.3

p.G1317D

c.3950G>A

3 papers

NM_000428.3

p.C1313Y

c.3938G>A

1 paper

NM_000428.3

p.R1327C

c.3979C>T

1 paper

NM_000428.3

p.R1327G

c.3979C>G

1 paper

NM_000428.3

p.R1327H

c.3980G>A

1 paper

NM_000428.3

p.D1305H

c.3913G>C

1 paper

NM_000428.3

p.D1331N

c.3991G>A

1 paper

NM_000428.3

p.G1333A

c.3998G>C

1 paper

NM_000428.3

p.E1335K

c.4003G>A

4 papers

NM_000428.3

p.V1344insFs

c.4031_4032insA

1 paper

NM_000428.3

p.D1345Splc

c.4033+2T>C

1 paper

NM_000428.3

p.D1303Splc

c.3908-57G>A