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.I2436delFs

c.7307delA

Surrounding Variants

1 paper

NM_001999.4

p.I2436fs

c.7306_7307fs

4 papers

NM_001999.4

p.Q2432H

c.7296G>T

4 papers

NM_001999.4

p.Q2432H

c.7296G>C

1 paper

NM_001999.4

p.G2442R

c.7324G>C

1 paper

NM_001999.4

p.G2442R

c.7324G>A

1 paper

NM_001999.4

p.T2430A

c.7288A>G

1 paper

NM_001999.4

p.G2429R

c.7285G>C

1 paper

NM_001999.4

p.G2429R

c.7285G>A

1 paper

NM_001999.4

p.P2428S

c.7282C>T

1 paper

NM_001999.4

p.L2427I

c.7279C>A

1 paper

NM_001999.4

p.G2447A

c.7340G>C

2 papers

NM_001999.4

p.P2426T

c.7276C>A