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.I497T

c.1490T>C

Surrounding Variants

1 paper

NM_001999.4

p.D496E

c.1488T>A

1 paper

NM_001999.4

p.Q493R

c.1478A>G

1 paper

NM_001999.4

p.H501delFs

c.1502delT

1 paper

NM_001999.4

p.Q493*

c.1477C>T

1 paper

NM_001999.4

p.N492insFs

c.1475dupA

1 paper

NM_001999.4

p.N492delFs

c.1475delT

1 paper

NM_001999.4

p.N503fs

c.1507_1508fs

2 papers

NM_001999.4

p.I490delFs

c.1469delA

1 paper

NM_001999.4

p.T489Splc

c.1466-1G>A

1 paper

NM_001999.4

p.C505insFs

c.1515dupT

1 paper

NM_001999.4

p.N507delFs

c.1520delT

1 paper

NM_001999.4

p.N507del1

c.1519_1520delATT