Varaico: Literature-Extracted Genetic Variants

FBN2

843 papers

RefSeq Summary

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [p...

Pfam Domains

Fibrillin_U_Naa 76–112UCSCFibrillin 1 unique N-terminal domain

EGF_FBN_1staa 119–139UCSCFibrillin, first EGF domain

TBaa 223–261UCSCTB domain

EGF_CAaa 276–316UCSCCalcium-binding EGF domain

EGF_CAaa 318–358UCSCCalcium-binding EGF domain

TBaa 373–417UCSCTB domain

Gene Aliases

HGNC Name

fibrillin 2

HGNC Previous Symbol

CCA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001999.4

p.D548A

c.1643A>C

Surrounding Variants

1 paper

NM_001999.4

p.D548N

c.1642G>A

1 paper

NM_001999.4

p.N551D

c.1651A>G

1 paper

NM_001999.4

p.N551K

c.1653C>G

1 paper

NM_001999.4

p.N551K

c.1653C>A

1 paper

NM_001999.4

p.N542insFs

c.1625_1626ins4

1 paper

NM_001999.4

p.Y556H

c.1666T>C

4 papers

NM_001999.4

p.D537G

c.1610A>G

2 papers

NM_001999.4

p.V536I

c.1606G>A

1 paper

NM_001999.4

p.D535delFs

c.1605delA

1 paper

NM_001999.4

p.H561Y

c.1681C>T

1 paper

NM_001999.4

p.F564C

c.1691T>G

1 paper

NM_001999.4

p.Q565*

c.1693C>T