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.F978L

c.2932T>C

Surrounding Variants

1 paper

NM_001999.4

p.F978L

c.2934T>G

1 paper

NM_001999.4

p.F978L

c.2934T>A

1 paper

NM_001999.4

p.S977F

c.2930C>T

1 paper

NM_001999.4

p.G976V

c.2927G>T

1 paper

NM_001999.4

p.C980C

c.2940C>T

1 paper

NM_001999.4

p.E981*

c.2941G>T

6 papers

NM_001999.4

p.C982F

c.2945G>T

1 paper

NM_001999.4

p.N973D

c.2917A>G

1 paper

NM_001999.4

p.E981_P983del3

c.2941_2948del9

1 paper

NM_001999.4

p.R970C

c.2908C>T

1 paper

NM_001999.4

p.L988F

c.2964G>T

1 paper

NM_001999.4

p.L988F

c.2964G>C