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

2 papers

NM_001999.4

p.E751A

c.2252A>C

Surrounding Variants

1 paper

NM_001999.4

p.F752S

c.2255T>C

9 papers

NM_001999.4

p.G754S

c.2260G>A

1 paper

NM_001999.4

p.A750Splc

c.2249-26T>G

1 paper

NM_001999.4

p.I762delFs

c.2285_2286delGA

1 paper

NM_001999.4

p.R767delFs

c.2301delT

1 paper

NM_001999.4

p.D768Splc

c.2303-2A>G

1 paper

NM_001999.4

p.I769S

c.2306T>G

1 paper

NM_001999.4

p.N770H

c.2308A>C

1 paper

NM_001999.4

p.I769delFs

c.2307delG

1 paper

NM_001999.4

p.L774M

c.2320T>A

1 paper

NM_001999.4

p.P776T

c.2326C>A

1 paper

NM_001999.4

p.I778V

c.2332A>G