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

1–12 of 1598 variants

20 papers

NM_001999.4

p.V965I

c.2893G>A

14 papers

NM_001999.4

p.M2311V

c.6931A>G

11 papers

NM_001999.4

p.P326S

c.976C>T

10 papers

NM_001999.4

p.S2580L

c.7739C>T

9 papers

NM_001999.4

p.G754S

c.2260G>A

8 papers

NM_001999.4

p.D1242Splc

c.3725-15A>G

8 papers

NM_001999.4

p.H1381N

c.4141C>A

8 papers

NM_001999.4

p.D2191N

c.6571G>A

7 papers

NM_001999.4

p.D548A

c.1643A>C

7 papers

NM_001999.4

p.S2400S

c.7200T>C

6 papers

NM_001999.4

p.G531A

c.1592G>C

6 papers

NM_001999.4

p.C982F

c.2945G>T