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.M2397V

c.7189A>G

Surrounding Variants

1 paper

NM_001999.4

p.Q2396*

c.7186C>T

1 paper

NM_001999.4

p.I2394T

c.7181T>C

1 paper

NM_001999.4

p.I2394V

c.7180A>G

7 papers

NM_001999.4

p.S2400S

c.7200T>C

1 paper

NM_001999.4

p.S2401N

c.7202G>A

1 paper

NM_001999.4

p.V2390L

c.7168G>T

1 paper

NM_001999.4

p.V2390L

c.7168G>C

1 paper

NM_001999.4

p.V2390I

c.7168G>A

1 paper

NM_001999.4

p.V2405I

c.7213G>A

1 paper

NM_001999.4

p.K2407T

c.7220A>C

1 paper

NM_001999.4

p.S2408A

c.7222T>G

1 paper

NM_001999.4

p.C2410*

c.7230C>A