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.N2173S

c.6518A>G

Surrounding Variants

1 paper

NM_001999.4

p.D2171Splc

c.6512-1G>A

1 paper

NM_001999.4

p.N2184I

c.6551A>T

1 paper

NM_001999.4

p.Q2186*

c.6556C>T

1 paper

NM_001999.4

p.C2187Y

c.6560G>A

1 paper

NM_001999.4

p.N2189S

c.6566A>G

1 paper

NM_001999.4

p.T2190I

c.6569C>T

8 papers

NM_001999.4

p.D2191N

c.6571G>A

2 papers

NM_001999.4

p.G2192R

c.6574G>C

2 papers

NM_001999.4

p.G2192R

c.6574G>A

1 paper

NM_001999.4

p.G2192E

c.6575G>A

2 papers

NM_001999.4

p.R2195C

c.6583C>T

1 paper

NM_001999.4

p.C2196Y

c.6587G>A