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.P2325S

c.6973C>T

Surrounding Variants

1 paper

NM_001999.4

p.R2329*

c.6985C>T

1 paper

NM_001999.4

p.M2320I

c.6960G>T

1 paper

NM_001999.4

p.M2320I

c.6960G>C

1 paper

NM_001999.4

p.R2329Q

c.6986G>A

1 paper

NM_001999.4

p.M2320I

c.6960G>A

1 paper

NM_001999.4

p.R2330G

c.6988A>G

1 paper

NM_001999.4

p.T2318I

c.6953C>T

2 papers

NM_001999.4

p.G2317S

c.6949G>A

1 paper

NM_001999.4

p.I2316T

c.6947T>C

2 papers

NM_001999.4

p.I2316F

c.6946A>T

1 paper

NM_001999.4

p.C2336Y

c.7007G>A

14 papers

NM_001999.4

p.M2311V

c.6931A>G