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.N1259K

c.3777T>A

Surrounding Variants

1 paper

NM_001999.4

p.N1259K

c.3777T>G

3 papers

NM_001999.4

p.C1257W

c.3771C>G

1 paper

NM_001999.4

p.G1262R

c.3784G>C

1 paper

NM_001999.4

p.G1262R

c.3784G>A

4 papers

NM_001999.4

p.C1257R

c.3769T>C

1 paper

NM_001999.4

p.S1263T

c.3788G>C

3 papers

NM_001999.4

p.D1254D

c.3762C>T

2 papers

NM_001999.4

p.E1265K

c.3793G>A

3 papers

NM_001999.4

p.C1253W

c.3759T>G

3 papers

NM_001999.4

p.C1253Y

c.3758G>A

1 paper

NM_001999.4

p.G1252D

c.3755G>A

3 papers

NM_001999.4

p.C1268R

c.3802T>C