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

1 paper

NM_001999.4

p.D2571Splc

c.7712-11T>A

Surrounding Variants

1 paper

NM_001999.4

p.D2571Y

c.7711G>T

1 paper

NM_001999.4

p.D2571N

c.7711G>A

1 paper

NM_001999.4

p.N2572S

c.7715A>G

1 paper

NM_001999.4

p.E2574K

c.7720G>A

10 papers

NM_001999.4

p.S2580L

c.7739C>T

1 paper

NM_001999.4

p.C2582Y

c.7745G>A

1 paper

NM_001999.4

p.G2583A

c.7748G>C

1 paper

NM_001999.4

p.G2586R

c.7756G>C

1 paper

NM_001999.4

p.G2586R

c.7756G>A

1 paper

NM_001999.4

p.G2593S

c.7777G>A

1 paper

NM_001999.4

p.S2594I

c.7781G>T

3 papers

NM_001999.4

p.F2603S

c.7808T>C