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

11 papers

NM_001999.4

p.P326S

c.976C>T

Surrounding Variants

1 paper

NM_001999.4

p.G327R

c.979G>C

1 paper

NM_001999.4

p.G327R

c.979G>A

1 paper

NM_001999.4

p.I328R

c.983T>G

1 paper

NM_001999.4

p.G327_I328del2

c.979_983del6

1 paper

NM_001999.4

p.E321G

c.962A>G

1 paper

NM_001999.4

p.E321insFs

c.961_962insC

1 paper

NM_001999.4

p.D318Y

c.952G>T

1 paper

NM_001999.4

p.S335C

c.1004C>G

1 paper

NM_001999.4

p.C334delFs

c.1002delA

1 paper

NM_001999.4

p.D318Splc

c.953-6G>A

1 paper

NM_001999.4

p.N336Y

c.1006A>T

1 paper

NM_001999.4

p.D318Splc

c.953-9C>A