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.T513S

c.1537A>T

Surrounding Variants

1 paper

NM_001999.4

p.T513S

c.1538C>G

1 paper

NM_001999.4

p.T513delFs

c.1538_1539delAG

1 paper

NM_001999.4

p.S515T

c.1543T>A

1 paper

NM_001999.4

p.S515*

c.1544C>G

1 paper

NM_001999.4

p.S515*

c.1544C>A

1 paper

NM_001999.4

p.R509C

c.1525C>T

1 paper

NM_001999.4

p.N507del1

c.1519_1520delATT

1 paper

NM_001999.4

p.R518*

c.1552C>T

1 paper

NM_001999.4

p.N507delFs

c.1520delT

1 paper

NM_001999.4

p.R518L

c.1553G>T

1 paper

NM_001999.4

p.C519R

c.1555T>C

1 paper

NM_001999.4

p.C505insFs

c.1515dupT